NM_002890.3(RASA1):c.1290G>A (p.Gln430=) AND Capillary malformation-arteriovenous malformation 1

Clinical significance:Uncertain significance (Last evaluated: Mar 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000233174.1

Allele description [Variation Report for NM_002890.3(RASA1):c.1290G>A (p.Gln430=)]

NM_002890.3(RASA1):c.1290G>A (p.Gln430=)

Genes:
RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_002890.3(RASA1):c.1290G>A (p.Gln430=)
HGVS:
  • NC_000005.10:g.87353193G>A
  • NG_011650.1:g.89860G>A
  • NM_001364075.2:c.934-40398C>T
  • NM_002890.3:c.1290G>AMANE SELECT
  • NM_022650.2:c.759G>A
  • NP_002881.1:p.Gln430=
  • NP_072179.1:p.Gln253=
  • NC_000005.9:g.86649010G>A
  • NM_002890.2:c.1290G>A
Links:
dbSNP: rs765869491
NCBI 1000 Genomes Browser:
rs765869491
Molecular consequence:
  • NM_001364075.2:c.934-40398C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002890.3:c.1290G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022650.2:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000287748Invitaecriteria provided, single submitter
Uncertain significance
(Mar 27, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000287748.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change affects codon 430 of the RASA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RASA1 protein. This variant is present in population databases (rs765869491, ExAC 0.04%) but has not been reported in the literature in individuals with a RASA1-related disease. This sequence change is not expected to affect splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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