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NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 19, 2020
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:
RCV002435882.2

Allele description [Variation Report for NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)]

NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)

Genes:
LOC110121288:VISTA enhancer hs2268 [Gene]
SCN10A:sodium voltage-gated channel alpha subunit 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)
HGVS:
  • NC_000003.12:g.38726673T>C
  • NG_031891.3:g.94544A>G
  • NG_053903.1:g.4638T>C
  • NM_001293306.2:c.3020A>G
  • NM_001293307.2:c.2726A>G
  • NM_006514.4:c.3020A>GMANE SELECT
  • NP_001280235.2:p.Asp1007Gly
  • NP_001280236.2:p.Asp909Gly
  • NP_006505.4:p.Asp1007Gly
  • NC_000003.11:g.38768164T>C
  • NG_031891.2:g.72338A>G
  • NM_006514.2:c.3020A>G
Protein change:
D1007G
Molecular consequence:
  • NM_001293306.2:c.3020A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293307.2:c.2726A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006514.4:c.3020A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002753075Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 19, 2020) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants.

Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C.

Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186.

PubMed [citation]
PMID:
31292628

Details of each submission

From Ambry Genetics, SCV002753075.2

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

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: May 1, 2024