NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) AND Primary familial hypertrophic cardiomyopathy

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

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000157498.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)]

NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
Other names:
p.A572F:GCC>TTC
HGVS:
  • NC_000003.12:g.38603887_38603888delinsAA
  • NG_008934.1:g.50785_50786delinsTT
  • NM_000335.5:c.1714_1715delinsTTMANE SELECT
  • NM_001099404.2:c.1714_1715delinsTT
  • NM_001099405.2:c.1714_1715delinsTT
  • NM_001160160.2:c.1714_1715delinsTT
  • NM_001160161.2:c.1714_1715delinsTT
  • NM_001354701.2:c.1714_1715delinsTT
  • NM_198056.3:c.1714_1715delinsTT
  • NP_000326.2:p.Ala572Phe
  • NP_001092874.1:p.Ala572Phe
  • NP_001092875.1:p.Ala572Phe
  • NP_001153632.1:p.Ala572Phe
  • NP_001153633.1:p.Ala572Phe
  • NP_001341630.1:p.Ala572Phe
  • NP_932173.1:p.Ala572Phe
  • LRG_289:g.50785_50786delinsTT
  • NC_000003.11:g.38645378_38645379delinsAA
  • NM_000335.4:c.1714_1715delGCinsTT
  • NM_198056.2:c.1714_1715delGCinsTT
Protein change:
A572F
Links:
dbSNP: rs730880211
NCBI 1000 Genomes Browser:
rs730880211
Molecular consequence:
  • NM_000335.5:c.1714_1715delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1714_1715delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1714_1715delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1714_1715delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1714_1715delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1714_1715delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1714_1715delinsTT - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000207243Blueprint Geneticsno assertion criteria providedUncertain significance
(Mar 19, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Cardiac sodium channel gene variants and sudden cardiac death in women.

Albert CM, Nam EG, Rimm EB, Jin HW, Hajjar RJ, Hunter DJ, MacRae CA, Ellinor PT.

Circulation. 2008 Jan 1;117(1):16-23. Epub 2007 Dec 10.

PubMed [citation]
PMID:
18071069

Details of each submission

From Blueprint Genetics, SCV000207243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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