NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 19, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156589.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)]

NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)

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.152C>T (p.Ala51Val)
HGVS:
  • NC_000003.12:g.38633156G>A
  • NG_008934.1:g.21517C>T
  • NM_000335.5:c.152C>TMANE SELECT
  • NM_001099404.1:c.152C>T
  • NM_001099405.1:c.152C>T
  • NM_001160160.2:c.152C>T
  • NM_001160161.1:c.152C>T
  • NM_001354701.2:c.152C>T
  • NM_198056.2:c.152C>T
  • NP_000326.2:p.Ala51Val
  • NP_001092874.1:p.Ala51Val
  • NP_001092875.1:p.Ala51Val
  • NP_001153632.1:p.Ala51Val
  • NP_001153633.1:p.Ala51Val
  • NP_001341630.1:p.Ala51Val
  • NP_932173.1:p.Ala51Val
  • LRG_289t1:c.152C>T
  • LRG_289t3:c.152C>T
  • LRG_289:g.21517C>T
  • LRG_289p1:p.Ala51Val
  • LRG_289p3:p.Ala51Val
  • NC_000003.11:g.38674647G>A
Protein change:
A51V
Links:
dbSNP: rs727505131
NCBI 1000 Genomes Browser:
rs727505131
Molecular consequence:
  • NM_000335.5:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.1:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.1:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.1:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000206308Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jun 19, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000206308.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The Ala51Val varian t in SCN5A has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to assess the frequency of th is variant. Computational prediction tools and conservation analysis suggest tha t this variant may not impact the protein and several mammals (dolphin, killer w hale, and tenrec) have a valine (Val) at this position, suggesting that this cha nge may be tolerated, though this information is not predictive enough to rule o ut pathogenicity. In summary, while the clinical significance of the Ala51Val va riant is uncertain, the presence of the variant amino acid in other mammals sugg ests that is more likely to be benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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