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NM_006514.4(SCN10A):c.1668A>T (p.Gln556His) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 26, 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:
RCV002397408.9

Allele description [Variation Report for NM_006514.4(SCN10A):c.1668A>T (p.Gln556His)]

NM_006514.4(SCN10A):c.1668A>T (p.Gln556His)

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.1668A>T (p.Gln556His)
HGVS:
  • NC_000003.12:g.38752306T>A
  • NG_031891.2:g.46705A>T
  • NM_001293306.2:c.1668A>T
  • NM_001293307.2:c.1462-2122A>T
  • NM_006514.4:c.1668A>TMANE SELECT
  • NP_001280235.2:p.Gln556His
  • NP_006505.3:p.Gln556His
  • NP_006505.4:p.Gln556His
  • NC_000003.11:g.38793797T>A
  • NM_006514.2:c.1668A>T
  • NM_006514.3:c.1668A>T
Protein change:
Q556H
Links:
dbSNP: rs770276976
NCBI 1000 Genomes Browser:
rs770276976
Molecular consequence:
  • NM_001293307.2:c.1462-2122A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293306.2:c.1668A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006514.4:c.1668A>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
SCV002709214Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 26, 2020) 		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, SCV002709214.2

#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: Oct 26, 2024