NM_002890.3(RASA1):c.475_476del (p.Leu159fs) AND Capillary malformation-arteriovenous malformation 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000017370.32

Allele description [Variation Report for NM_002890.3(RASA1):c.475_476del (p.Leu159fs)]

NM_002890.3(RASA1):c.475_476del (p.Leu159fs)

Gene:

RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5q14.3

Genomic location:

Preferred name:

NM_002890.3(RASA1):c.475_476del (p.Leu159fs)

HGVS:

NC_000005.10:g.87268922CT[2]
NG_011650.1:g.5589CT[2]
NM_002890.2:c.475_476del
NM_002890.3:c.475_476delMANE SELECT
NP_002881.1:p.Leu159fs
NC_000005.9:g.86564739CT[2]
NC_000005.9:g.86564739_86564740del
NM_002890.2:c.475_476delCT
NM_002890.3:c.475_476del
p.L159Gfs*20
p.Leu159fs

Protein change:

L159fs

Links:

OMIM: 139150.0004; dbSNP: rs797044451

NCBI 1000 Genomes Browser:

rs797044451

Molecular consequence:

NM_002890.3:c.475_476del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Capillary malformation-arteriovenous malformation 1 (CMAVM1)
Identifiers:: MONDO: MONDO:0020783; MedGen: C4747394; Orphanet: 137667; OMIM: 608354

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037642	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037642

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2003)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M.

Am J Hum Genet. 2003 Dec;73(6):1240-9. Epub 2003 Nov 24.

PubMed [citation]

PMID:: 14639529
PMCID:: PMC1180390

Details of each submission

From OMIM, SCV000037642.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Eerola et al. (2003) described a family (PW1) with capillary malformation-arteriovenous malformation-1 (CMAVM1; 608354) in which the proband had Parkes Weber syndrome in the lower limb. Both parents and 1 grandparent on both sides of the family had capillary malformations. The brother of the proband had an intracranial arteriovenous malformation as well as multiple cutaneous capillary malformations. A 2-bp deletion in the RASA1 cDNA, 475_476delCT, was found, causing a frameshift and a premature stop codon at residue 178; the frameshift occurred at amino acid 159. The father of the proband, with a large facial capillary malformation, was pictured, as was a grandfather of the proband, who had a large nuchal capillary malformation. Neither of these individuals had the mutation in the RASA1 gene.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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