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NM_006514.4(SCN10A):c.3214C>G (p.Gln1072Glu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2022
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:
RCV002324623.2

Allele description [Variation Report for NM_006514.4(SCN10A):c.3214C>G (p.Gln1072Glu)]

NM_006514.4(SCN10A):c.3214C>G (p.Gln1072Glu)

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.3214C>G (p.Gln1072Glu)
HGVS:
  • NC_000003.12:g.38725188G>C
  • NG_031891.3:g.96029C>G
  • NG_053903.1:g.3153G>C
  • NM_001293306.2:c.3211C>G
  • NM_001293307.2:c.2920C>G
  • NM_006514.4:c.3214C>GMANE SELECT
  • NP_001280235.2:p.Gln1071Glu
  • NP_001280236.2:p.Gln974Glu
  • NP_006505.4:p.Gln1072Glu
  • NC_000003.11:g.38766679G>C
  • NG_031891.2:g.73823C>G
  • NM_006514.2:c.3214C>G
Protein change:
Q1071E
Molecular consequence:
  • NM_001293306.2:c.3211C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293307.2:c.2920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006514.4:c.3214C>G - 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
SCV002610369Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 3, 2022) 		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, SCV002610369.2

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

Description

The p.Q1072E variant (also known as c.3214C>G), located in coding exon 17 of the SCN10A gene, results from a C to G substitution at nucleotide position 3214. The glutamine at codon 1072 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024