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NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 22, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002352218.10

Allele description [Variation Report for NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)]

NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)
HGVS:
  • NC_000003.12:g.38550577G>A
  • NG_008934.1:g.104096C>T
  • NM_000335.5:c.5792C>TMANE SELECT
  • NM_001099404.2:c.5795C>T
  • NM_001099405.2:c.5741C>T
  • NM_001160160.2:c.5696C>T
  • NM_001160161.2:c.5633C>T
  • NM_001354701.2:c.5738C>T
  • NM_198056.3:c.5795C>T
  • NP_000326.2:p.Ala1931Val
  • NP_001092874.1:p.Ala1932Val
  • NP_001092875.1:p.Ala1914Val
  • NP_001153632.1:p.Ala1899Val
  • NP_001153633.1:p.Ala1878Val
  • NP_001341630.1:p.Ala1913Val
  • NP_932173.1:p.Ala1932Val
  • NP_932173.1:p.Ala1932Val
  • LRG_289t1:c.5795C>T
  • LRG_289:g.104096C>T
  • LRG_289p1:p.Ala1932Val
  • NC_000003.11:g.38592068G>A
  • NM_198056.2:c.5795C>T
Protein change:
A1878V
Links:
dbSNP: rs371194826
NCBI 1000 Genomes Browser:
rs371194826
Molecular consequence:
  • NM_000335.5:c.5792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.5795C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.5741C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.5696C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.5633C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.5738C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.5795C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002648957Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002648957.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 24, 2024