RASA1 Database

  • Reference sequences were NC_000005.9 and NM_002890.1. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
  • Disease abbreviations - Arteriovenous Fistula (AVF), Arteriovenous Malformation (AVM), Capillary Malformation (CM), and Parkes-Weber syndrome (PKWS).

187 variants found

Genomic Position Location ▾ Mutation Type Nucleotide Change Protein Change Classification Phenotype References Comments
Exon 1 (5'UTR) Large deletion 5’UTR-EX1del Pathogenic AVM Wooderchak-Donahue (2018)
Deletion spans chr5:85,938,734-86,602,815
Exon 1 (5'UTR) Large deletion 5’UTR-EX1del Pathogenic CM Wooderchak-Donahue (2018)
Son (1 month old) died of large brain AVM. Deletion spans chr5:86,469,478-86,613,626.
Exon 1 (5'UTR) Regulatory c.-106_-105delinsTT Suspected benign Wooderchak-Donahue (2018)
Exon 1 Missense c.208G>C p.Glu70Gln VUS Suspected HHT Wooderchak-Donahue (2018)
Lung AVM
Exon 1 Missense c.209A>G p.Glu70Gly Benign Wooderchak-Donahue (2018)
Exon 1 Deletion c.261_262del p.Gly89Argfs*22 Pathogenic Suspected HHT Wooderchak-Donahue (2018)
Epistaxis, telangiectasia, daughter has brain AVM
Exon 1 Deletion c.261del p.Gly89Glufs*7 Pathogenic CM, AVM Saliou (2017)
Spinal AVM with perimedullar subarachnoid hemorrhage
Exon 1 Missense c.296C>T p.Ala99Val Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 1 Missense c.346C>G p.Leu116Val Pending classification Maruani (2017)
rs149246093 has a frequency of 0.00023 in the European-American population
Exon 1 Silent c.360C>A p.Pro120Pro Suspected benign Wooderchak-Donahue (2018)
Exon 1 Nonsense c.365C>A p.Ser122* Pathogenic CM Revencu (2013)
Exon 1 Deletion c.383_384del p.Leu128Argfs*29 Pathogenic CM, AVM Saliou (2017)
Brain AVM
Exon 1 Duplication c.409dup p.Leu137Profs*21 Pathogenic CM, AVM Revencu (2013)
Right foot AVM
Exon 1 Indel c.442_443delinsT p.Ala148Trpfs*26 Pathogenic CM Revencu (2013)
Exon 1 Nonsense c.463G>T p.Glu155* Pathogenic CM Revencu (2013)
Exon 1 Missense c.467G>T p.Gly156Val VUS AVM Wooderchak-Donahue (2018)
Leg and thigh AVMs
Exon 1 Deletion c.475_476del p.Leu159fs Pathogenic CM, AVM, PKWS Eerola (2003)
ARUP Laboratories
4 family members with CM, 1 with CM-AVM, and 1 with PKWS
Exon 1 Nonsense c.492C>G p.Tyr164* Pathogenic CM, AVM Revencu (2013)
Pial AVM, deterioration in speech at 2, mental retardation
Exon 1 Deletion c.512del p.Ile171fs Pathogenic CM, AVM Eerola (2003)
8 family members with CM, 3 with Nuchal CM, 2 with CM-AVM
Intron 1 Splice Site c.539+1G>A Pathogenic CM Maruani (2017)
Bilateral asymmetric CMs across thighs and legs
Intron 1 Intronic c.540-27G>A Benign Wooderchak-Donahue (2018)
Exon 2-9 Large deletion EX2-9del Pathogenic CM Wooderchak-Donahue (2018)
Exon 2 Deletion c.556_562del p.Leu186Glufs*3 Pathogenic CM, AVF Saliou (2017)
Multiple brain AVFs, mucocutaneous telangiectasia, hepato- and splenomegaly
Exon 2 Duplication c.611dup p.Tyr204* Pathogenic CM Wooderchak-Donahue (2018)
Exon 2 Deletion c.613_617del p.Leu205fs Pathogenic CM Revencu (2008)
ARUP Laboratories
Optic glioma (before 12y), lipoma (before 10y)
Exon 2 Nonsense c.656C>G p.Ser219* Pathogenic CM Revencu (2008)
Exon 3 Indel c.734_737delinsAAA p.Arg245fs Pathogenic CM Wijn (2012)
Exon 3 Deletion c.806_810del p.Leu269fs Pathogenic CM, PKWS Revencu (2008)
Cardiac overload
Intron 3 Splice Site c.828+3A>T Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
Intron 3 Splice Site c.828+3A>T Pathogenic CM Wooderchak-Donahue (2018)
Right thigh epidermal nevus
Intron 3 Intronic c.829-12del Benign ARUP Laboratories
Intron 3 Splice Site c.829-9G>A Pending classification CM Hershkovitz (2008)
4 month old with red maulae on cheek, ear, and leg. Small arteriovenous shunt in outer ear. Identical twin brother has 2 similar lesions on arm.
Intron 3 Splice Site c.829-1G>A Pathogenic CM, AVM Revencu (2013)
Left arm AVM
Exon 4 Nonsense c.853C>T p.Arg285* Pathogenic CM Hershkovitz (2008)
ARUP Laboratories
6 y old with epilepsy and red maculae on his cheek, ear, shoulder, and arm. Similar lesions in other family members who denied any neurological complaint. Originally reported as p.Gln285X
Intron 4 Splice Site c.899+1G>T Pathogenic CM, AVM Revencu (2013)
Ear AVM
Exon 5 Duplication c.951dupG p.Met318fs Pathogenic CM Revencu (2008)
Exon 5 Nonsense c.957G>A p.Trp319* Pathogenic CM, PKWS Revencu (2008)
Cardiac overload
Exon 5 Deletion c.934_938del p.Glu312Argfs*14 Pathogenic CM, PKWS Flores Daboub (2020)
Somatic (3.6%), Likely de novo
Intron 5 Splice Site c.1017+1G>T Pathogenic CM, PKWS Revencu (2008)
Cardiac overload
Intron 5 Intronic c.1017+65G>A Benign ARUP Laboratories
Polymorphism in normal and affected individuals.
Exon 7 Nonsense c.1063A>T p.Lys355* Pathogenic CM, AVM Lapinski (2018)
Intron 7 Splice Site c.1102+2T>C Pathogenic CM, AVM Saliou (2017)
Brain AVM
Intron 7 Intronic c.1102+10T>C Suspected benign Wooderchak-Donahue (2018)
Intron 7 Splice Site c.1103-2A>G Pathogenic CM, T Wooderchak-Donahue (2018)
Shortness of breath
Exon 8 Nonsense c.1192C>T p.Arg398* Pathogenic CM, AVM/AVF Revencu (2008)
Epilepsy, hydrocephaly
Exon 8 Duplication c.1208dupC p.Thr404fs Pathogenic CM, AVM/AVF Revencu (2008)
Exon 8 Deletion c.1220_1223del p.Asn407Serfs*3 Pathogenic CM Revencu (2013)
Wooderchak-Donahue (2018)
Birthmarks
Exon 8 Nonsense c.1248T>G p.Tyr416* Pathogenic CM Macmurdo (2016)
Lymphedema, chylothorax, and overgrowth were also noted in the newborn. Her mother also had CMs in which a somatic second hit (RASA1 c.2245C>T, p.Arg749*) was discovered in the CM lesion.
Exon 9 Insertion c.1268_1269dup p.Asp424* Pathogenic CM, AVM Lapinski (2018)
Reported as c.1269_1270insTA, p.Ile423* (Lapinski, 2018)
Exon 9 Missense c.1277A>G p.Tyr426Cys Pending classification CM Revencu (2008)
Typical solitary CM
Exon 9 Nonsense c.1279C>T p.Arg427* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
CM-AVM
Exon 9 Deletion c.1290_1291del p.Gln430Hisfs*3 Pathogenic CM, PKWS Revencu (2013)
Left leg hypertrophy
Exon 9 Missense c.1310T>G p.Leu437Arg VUS CM Wooderchak-Donahue (2012)
ARUP Laboratories
Intron 9 Splice Site c.1332+5G>A Pending classification CM Revencu (2008)
Intron 9 Splice Site c.1332+6T>G VUS Wooderchak-Donahue (2018)
Suspected PTEN hamartoma tumor syndrome; overgrowth; facial venous malformation
Exon 10 Nonsense c.1336C>T p.Gln446* Pathogenic CM, PKWS, AVM Eerola (2003)
Revencu (2008)
7 family members with CM, 1 with Nuchal CM, 2 with CM-AVM
Exon 10 Nonsense c.1342C>T p.Gln448* Pathogenic CM, AVM Revencu (2013)
Tongue AVM
Exon 10 Indel c.1343_1346delinsCATG p.Gln448fs Pathogenic CM Hershkovitz (2008b)
2 day old infant with limb enlargement and cutaneous vascular malformations on leg and neck. Patient's sister had a facial AVM. Four other siblings and the patient's mother displayed CMs.
Exon 10 Insertion c.1350_1351insT p.Asn451* Pathogenic CM, PKWS Revencu (2008)
Exon 10 Missense c.1352A>G p.Asn451Ser Pending classification Maruani (2017)
rs529871259 has a frequency of 0.002 in the African population
Exon 10 Insertion c.1362_1363insTCAGT p.Asp455fs Pathogenic CM Revencu (2008)
Exon 10 Deletion c.1384_1388del p.Thr462Profs*3 Pathogenic CM Revencu (2013)
Exon 10 Insertion c.1386_1387insCT p.Ile463fs Pathogenic CM, AVM Thiex (2010)
Exon 10 Deletion c.1402_1403del p.Lys468fs Pathogenic CM, AVM Wooderchak-Donahue (2012)
ARUP Laboratories
Reported as c.1401_1402delAA
Exon 10 Nonsense c.1440T>G p.Tyr480* Pathogenic CM Revencu (2013)
Intron 10 Splice Site c.1453+1del Pathogenic CM, AVF Thiex (2010)
Intron 10 Intronic c.1454-7delT Benign Wooderchak-Donahue (2018)
Exon 11 Deletion c.1455del p.Gly487Glufs*11 Pathogenic CM, AVM Saliou (2017)
Brain AVM
Exon 11 Duplication c.1480dup p.Tyr494fs Pathogenic CM, PKWS Revencu (2008)
Exon 11 Nonsense c.1490T>G p.Leu497* Pathogenic CM, AVM/AVF Revencu (2008)
Exon 11 Deletion c.1493_1494del p.Glu498fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
Reported as c.1491_1492delAG
Exon 11 Duplication c.1495_1496dup p.Ser500Valfs*21 Pathogenic CM Revencu (2013)
Reported as c.1494_1495dup, p.Gly499Argfs*22
Exon 11 Nonsense c.1507C>T p.Gln503* Pathogenic CM, AVM Boyden (2012)
Exon 11 Deletion c.1509del p.Gln503Hisfs*17 Pathogenic CM, AVM Saliou (2017)
Brain AVM
Exon 11 Insertion c.1513_1514insAA p.Ile505Lysfs*16 Pathogenic CM, AVM Wooderchak-Donahue (2018)
Bilateral brain AVM, left arm hypertrophy, telangiectasia
Exon 11 Insertion c.1517_1518dup p.Phe507Ilefs*14 Pathogenic CM Wooderchak-Donahue (2018)
"""Checkerboard"" pattern of vascular malformations"
Exon 11 Deletion c.1517_1520del p.Tyr506Leufs*13 Pathogenic CM, PKWS Revencu (2013)
Left leg hypertrophy
Exon 11 Nonsense c.1534C>T p.Arg512* Pathogenic CM, AVM Revencu (2013)
Wooderchak-Donahue (2018)
Hypertrophy of limb, portwine stain. Also identified as a RASA1 somatic second hit in a CM lesion in a patient with a germline RASA1 c.2125C>T, p.Arg709* mutation (Lapinski 2018)
Exon 11 Deletion c.1567_1568del p.Ser523Cysfs*9 Pathogenic AVF Saliou (2017)
Multiple brain AVFs
Exon 11 Duplication c.1572_1575dup p.Ser526fs Pathogenic CM, PKWS Revencu (2008)
Cardiac overload, tetralogy of Fallot, superficial basal cell carcinoma (33y)
Exon 11 Deletion c.1579_1582delGTCT p.Val527fs Pathogenic CM, AVM Eerola (2003)
ARUP Laboratories
5 family members with CM, 1 with Nuchal CM, 1 with CM-AVM
Exon 11 Missense c.1583A>G p.Tyr528Cys Benign Wooderchak-Donahue (2018)
Variant was originally classified as a VUS because it had been reported in individuals with CMs (Revencu 2013). Hernandez 2015 also identified this variant in a case suspected to have HHT. It was later found to be present in ~1% of Southeast Asians (ExAC database) and was reclassified to benign.
Exon 11 Missense c.1589T>A p.Val530Asp Pending classification CM, AVM Revencu (2013)
Brainstem AVM (brain haemorrhage with facial palsy at 3 weeks); Left leg AVM; Basal cell carcinoma in two individuals
Exon 11 Duplication c.1594dup p.Asp532Glyfs*2 Pathogenic AVM Saliou (2017)
Brain AVM
Exon 11 Deletion c.1596 1597del p.Asp532Glufs*17 Pathogenic CM, AVM Revencu (2013)
Right hand AVM
Intron 11 Splice Site c.1611-7delT Benign ARUP Laboratories
Exon 12 Duplication c.1616dup p.Asn539fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
Reported as c.1617dupA
Exon 12 Missense c.1619G>A p.Cys540Tyr Pending classification CM, AVF Eerola (2003)
4 family members with CM, 2 with Nuchal CM, 1 with CM-AVF
Exon 12 Nonsense c.1636C>T p.Gln546* Pathogenic CM, AVM/AVF Revencu (2008)
Exon 12 Missense c.1649A>T p.Glu550Val VUS CM Wooderchak-Donahue (2018)
Exon 12 Splice Site c.1666_1698+15del Pathogenic CM, AVM Thiex (2010)
Exon 12 Duplication c.1682_1683dup p.Pro562fs Pathogenic CM, AVM/AVF Revencu (2008)
Cardiac failure, epilepsy, hemorrhages, arterial septal defect II/patent foramen ovale
Intron 12 Splice Site c.1698+1G>T Pathogenic CM Revencu (2013)
Intron 12 Splice Site c.1698+2dup Pathogenic CM, AVM Wooderchak-Donahue (2018)
Overcash (2015)
Several hemangiomas
Intron 12 Splice Site c.1698+3_1698+4insT Pending classification CM, PKWS Revencu (2008)
Pulmonary stenosis
Exon 13 Nonsense c.1703G>A p.Trp568* Pathogenic CM, AVM Lapinski (2018)
Exon 13 Nonsense c.1717C>T p.Gln573* Pathogenic CM, AVM Thiex (2010)
Exon 13 Duplication c.1726dup p.Cys576Leufs*7 Pathogenic CM, AVM Revencu (2013)
Left arm AVM
Exon 13 Duplication c.1771dup p.Arg591fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
Reported as c.1771_2insC
Intron 13 Intronic c.1777-113G>A Benign Wooderchak-Donahue (2018)
Exon 14 Missense c.1834A>G p.Thr612Ala VUS Suspected HHT Wooderchak-Donahue (2018)
Brain AVM
Exon 14 Nonsense c.1870C>T p.Gln624* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
Exon 14 Missense c.1877C>A p.Ala626Glu Pending classification CM Revencu (2013)
Exon 15 Deletion c.1984_1988del p.Thr662Glufs*6 Pathogenic CM Wooderchak-Donahue (2018)
Left thigh hypertrophy
Exon 15 Deletion c.1989 1992del p.Lys664Alafs*13 Pathogenic CM, AVM Revencu (2013)
Left arm AVM
Intron 15 Splice Site c.2011+1G>C Pathogenic CM Wooderchak-Donahue (2018)
Intron 15 Intronic c.2011+56A>G Benign Wooderchak-Donahue (2018)
Exon 16-20 Large deletion EX16-20del Pathogenic CM Wooderchak-Donahue (2018)
Exon 16 Nonsense c.2026C>T p.Gln676* Pathogenic CM Revencu (2008)
ARUP Laboratories
Exon 16 Nonsense c.2035C>T p.Arg679* Pathogenic CM, AVM, PKWS Revencu (2013)
Wooderchak-Donahue (2018)
Right leg hypertrophy; another proband has CM, a cutaneous AVM, and telangiectasia
Exon 16 Nonsense c.2066G>A p.Trp689* Pathogenic CM Wooderchak-Donahue (2018)
Telangiectasia was also reported
Exon 16 Missense c.2084A>T p.His695Leu VUS CM, AVM/AVF Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 16 Missense c.2119C>T p.Arg707Cys Pending classification CM, AVM Kwong (2015)
Vein of Galen malformation identified during sonography of a pregnant mother during the third trimester. The malformation was later assessed by MRI and MR angiography.
Exon 16 Nonsense c.2125C>T p.Arg709* Pathogenic CM, AVM/AVF, PKWS Revencu (2008)
Vericose veins, Cardiac failure
Exon 16 Nonsense c.2131C>T p.Arg711* Pathogenic CM, AVF Revencu (2013)
Wooderchak-Donahue (2018)
Hypertrophy of face
Exon 16 Indel c.2155_2156delinsTA p.Pro719* Pathogenic Wooderchak-Donahue (2018)
Clinical information not reported
Intron 16 Splice Site c.2184+1del Pathogenic CM, PKWS Revencu (2008)
Patent ductus arteriosus, arterial septal defect, pulmonary stenosis, prolapsed tricuspid valve
Intron 16 Splice Site c.2185-2A>C Pathogenic CM Wooderchak-Donahue (2018)
Cyst-like lesion on cheek, congenital ptosis
Intron 16 Splice Site c.2185-1G>A Pathogenic CM Revencu (2008)
Exon 17 Missense c.2209G>A p.Val737Ile VUS CM Wooderchak-Donahue (2018)
Telangiectasia was also reported
Exon 17 Nonsense c.2225C>A p.Ser742* Pathogenic CM, AVM Wooderchak-Donahue (2012)
ARUP Laboratories
Facial hemangioma, macrocephaly, seizures
Exon 17 Nonsense c.2239C>T p.Gln747* Pathogenic CM, AVM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 17 Nonsense c.2245C>T p.Arg749* Pathogenic CM Revencu (2013)
Wooderchak-Donahue (2018)
Facial portwine stain. Somatic second hit identified in CM lesion (Macmurdo 2016).
Exon 17 Duplication c.2252_2255dup p.Ala753fs Pathogenic CM Hershkovitz (2008)
15 y old with congenital hypophyseal insufficiency and multiple red maculae on cheek, oral mucosa, and arm. His mother, aunt, and cousin, who suffered from congenital hand deformity, displayed similar vascular malformations. Originally reported as c.2252_2255dupTCAT het frameshift
Exon 17 Nonsense c.2269del p.Leu757* Pathogenic AVM/AVF, PKWS Wooderchak-Donahue (2018)
Leg lymphangioma, tetralogy of fallot, cellulitis. This case also had a PTEN c.1026+1G>A mutation.
Exon 17 Missense c.2288A>T p.Glu763Val Pending classification CM, AVM/AVF Revencu (2008)
Vein of Galen aneurysmal malformation, cardiac failure, epilepsy, died rapidly after birth
Exon 17 Silent c.2307G>A p.Leu769Leu Suspected benign Wooderchak-Donahue (2018)
Exon 17 Duplication c.2310dup p.Cys771Metfs*5 Pathogenic CM Wooderchak-Donahue (2018)
Exon 17 Nonsense c.2329G>T p.Glu777* Pathogenic CM, AVF Thiex (2010)
Exon 17 Deletion c.2336_2337del p.Ser779fs Pathogenic CM, AVM Eerola (2003)
3 family members with CM, 1 with Nuchal CM, 2 with CM-AVM
Exon 17 Nonsense c.2341G>T p.Glu781* Pathogenic CM, AVM/AVF Revencu (2008)
Hydrocephaly
Intron 17 Splice Site c.2344+1G>A Pathogenic CM Wooderchak-Donahue (2018)
Intron 17 Splice Site c.2344+1G>C Pathogenic CM, AVM Revencu (2013)
Facial AVM
Exon 18 Nonsense c.2365C>T p.Arg789* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
Angiolipoma (1y)
Exon 18 Nonsense c.2422C>T p.Gln808* Pathogenic CM, PKWS Revencu (2008)
Exon 18 Nonsense c.2441del p.Leu814* Pathogenic CM, AVM Palmyre (2017)
Saliou (2017)
Exon 18 Deletion c.2450_2451del p.Ser817fs Pathogenic CM, AVM/AVF Revencu (2008)
Exon 18 Duplication c.2451dup p.Ile818Tyrfs*12 Pathogenic CM Wooderchak-Donahue (2018)
Exon 18 Indel c.2457_2460delinsT p.Leu819_Lys820delinsPhe Pathogenic CM, AVM Revencu (2013)
Facial AVM; Right hand AVM
Exon 18 Duplication c.2467dup p.Glu823Glyfs*7 Pathogenic CM Whitaker (2016)
20 CMs on the limbs and neck
Intron 18 Intronic c.2488-102G>A Benign ARUP Laboratories
Intron 18 Intronic c.2488-41A>C Benign ARUP Laboratories
Intron 18 Splice Site c.2488-2A>G Pathogenic CM Revencu (2008)
Intron 18 Splice Site c.2488-1_2490del Pathogenic CM, AVM/AVF Revencu (2008)
Non-small-cell lung cancer (32y), hemoptysis. Reported as c.2488-1delGTTA.
Exon 19 Deletion c.2500_2501del p.Lys834Valfs*5 Pathogenic CM Revencu (2013)
Exon 19 Duplication c.2513dup p.Asn838Lysfs*2 Pathogenic AVM Saliou (2017)
Brain AVM
Exon 19 Insertion c.2514_2515insA p.Glu839fs Pathogenic CM Revencu (2008)
Exon 19 Deletion c.2532_2536del p.Leu845fs Pathogenic CM, AVM/AVF Revencu (2008)
De novo mutation in monozygotic twins. Vein of Galen aneurysmal malformation and cardiac failure in one. Typical solitary CM in two family members.
Exon 19 Deletion c.2579_2582del p.Phe860fs Pathogenic CM, AVM/AVF Revencu (2008)
Ectopic thyroid and parathyroid
Exon 19 Duplication c.2598dup p.Pro867Serfs*18 Pathogenic CM Wooderchak-Donahue (2018)
Intron 19 Splice Site c.2603+1G>A Pathogenic CM, AVM Revencu (2008)
ARUP Laboratories
Chylous ascites
Intron 19 Splice Site c.2603+2dup Pathogenic CM Revencu (2008)
ARUP Laboratories
Ureteral reflux, epispadias. Reported as c.2603+2_2603+3insT
Intron 19 Splice Site c.2603+4dup Pending classification CM Revencu (2008)
Reported as c.2603+4_2603+5insA
Intron 19 Splice Site c.2603+4del Pathogenic CM, AVM Wooderchak-Donahue (2018)
Case was originally suspected to have HHT due to telangiectasia and a brain AVM, but HHT molecular testing was negative
Intron 19 Splice Site c.2603+5G>T Pending classification CM, PKWS Revencu (2008)
Neurofibromas (53y)
Intron 19 Splice Site c.2603+5G>C Pathogenic CM Buhl (2012)
Intron 19 Intronic c.2603+185T>C Benign Wooderchak-Donahue (2018)
Intron 19 Intronic c.2604-122T>C Benign ARUP Laboratories
Intron 19 Splice Site c.2604-2A>C Pathogenic CM Wooderchak-Donahue (2018)
Hypertrophy of lower extremity
Intron 19 Splice Site c.2604-1_2605del Pathogenic CM Wooderchak-Donahue (2018)
Exon 20 Splice Site c.2604G>T p.Pro868Pro Pathogenic CM, AVM/AVF Wooderchak-Donahue (2018)
Mutation was shown to disrupt splicing by mRNA sequencing. Patient's brain AVM/AVF was identified through prenatal ultrasound and confirmed by MRI.
Exon 20 Silent c.2608T>C p.Leu870Leu Benign Wooderchak-Donahue (2018)
Exon 20 Nonsense c.2632C>T p.Gln878* Pathogenic CM, PKWS Revencu (2013)
Right leg hypertrophy (and ulceration); hydrops fetalis
Intron 20 Intronic c.2691-14del Benign ARUP Laboratories
Originially reported as c.2691-16delA
Intron 20 Intronic c.2691-11C>T Suspected benign Wooderchak-Donahue (2018)
Exon 21-25 Large deletion EX21-25del Pathogenic AVM Wooderchak-Donahue (2018)
Facial AVM
Exon 21 Deletion c.2698_2701del p.Val900Phefs*10 Pathogenic CM, AVF Wooderchak-Donahue (2018)
Exon 21 Deletion c.2703del p.Leu902Phefs*9 Pathogenic CM, AVM Saliou (2017)
Brain AVM
Exon 21 Nonsense c.2707C>T p.Arg903* Pathogenic CM, AVM Revencu (2013)
Wooderchak-Donahue (2018)
Intron 22 Intronic c.2848-26T>C Benign Wooderchak-Donahue (2018)
Exon 23 Deletion c.2925del p.Asn976Metfs*20 Pathogenic CM, PKWS Flores Daboub (2020)
Somatic (4.2%), Likely de novo
Intron 23 Splice Site c.2925+1G>T Pathogenic Wooderchak-Donahue (2018)
"3 month old with ""large right periocular lesion"""
Intron 23 Splice Site c.2925+1del Pathogenic CM Wooderchak-Donahue (2018)
Intron 23 Splice Site c.2925+5G>C Pathogenic CM, AVM Revencu (2013)
Spinal AVM with left leg paralysis at 2 years old
Exon 24 Deletion c.2927del p.Asn976Metfs*20 Pathogenic CM Durrington (2013)
Macular telangiectasia affecting the face, neck, chest, and abdomen. Presented during pregnancy.
Exon 24 Deletion c.2977del p.Arg993Valfs*3 Pathogenic CM, AVM, PKWS Revencu (2013)
Vein of Galen aneurysmal malformation (stroke), left arm hypertrophy
Exon 24 Deletion c.3024del p.Glu1008Aspfs*16 Pathogenic CM, AVM Revencu (2013)
Vein of Galen aneurysmal malformation (stroke at 3 years old), developmental delay
Exon 24 Nonsense c.3028C>T p.Arg1010* Pathogenic CM, AVM Revencu (2008)
Wooderchak-Donahue (2018)
Vestibular Schwannoma (26y); 13 year old male with suspected HHT with a lung AVM and telangiectasia
Exon 24 Deletion c.3038_3054del p.Ser1013Thrfs*27 Pathogenic CM Revencu (2013)
Exon 24 Nonsense c.3043G>T p.Glu1015* Pathogenic Suspected HHT Hernandez (2015)
Exon 24 Deletion c.3052delG p.Ala1018fs Pathogenic CM Revencu (2008)
Exon 24 Nonsense c.3055C>T p.Gln1019* Pathogenic CM Revencu (2013)
Intron 24 Splice Site c.3060+1dup Pathogenic Suspected HHT Wooderchak-Donahue (2018)
Telangiectasia was also reported
Intron 24 Intronic c.3060+21A>G Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 25 Silent c.3067T>C p.Leu1023Leu Pending classification Haga (2002)
SNP rs3747704 discovered during the Japanese Millennium Genome Project.
Exon 25 Deletion c.3109_3112del p.Gln1037Thrfs*63 Pathogenic CM, AVM Revencu (2013)
Left leg AVM; Naevus anemicus
3'UTR Regulatory c.*97A>G Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories
Reported as c.3144+97A>G