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NM_006514.4(SCN10A):c.1666C>T (p.Gln556Ter) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 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:
RCV002403896.2

Allele description [Variation Report for NM_006514.4(SCN10A):c.1666C>T (p.Gln556Ter)]

NM_006514.4(SCN10A):c.1666C>T (p.Gln556Ter)

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.1666C>T (p.Gln556Ter)
HGVS:
  • NC_000003.12:g.38752308G>A
  • NG_031891.3:g.68909C>T
  • NM_001293306.2:c.1666C>T
  • NM_001293307.2:c.1462-2124C>T
  • NM_006514.4:c.1666C>TMANE SELECT
  • NP_001280235.2:p.Gln556Ter
  • NP_006505.4:p.Gln556Ter
  • NC_000003.11:g.38793799G>A
  • NG_031891.2:g.46703C>T
  • NM_006514.2:c.1666C>T
Protein change:
Q556*
Molecular consequence:
  • NM_001293307.2:c.1462-2124C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293306.2:c.1666C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006514.4:c.1666C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002709091Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 11, 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, SCV002709091.2

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

Description

The p.Q556* variant (also known as c.1666C>T), located in coding exon 11 of the SCN10A gene, results from a C to T substitution at nucleotide position 1666. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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

Last Updated: Sep 29, 2024