NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Jan 30, 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:
RCV000143936.1

Allele description [Variation Report for NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)]

NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)
HGVS:
  • NC_000001.11:g.77926863C>T
  • NG_016625.1:g.43349C>T
  • NM_001172309.1:c.643C>T
  • NM_144573.3:c.835C>T
  • NM_144573.4:c.835C>TMANE SELECT
  • NP_001165780.1:p.Arg215Cys
  • NP_653174.3:p.Arg279Cys
  • NP_653174.3:p.Arg279Cys
  • LRG_442t1:c.835C>T
  • LRG_442:g.43349C>T
  • LRG_442p1:p.Arg279Cys
  • NC_000001.10:g.78392548C>T
  • Q0ZGT2:p.Arg279Cys
  • c.835C>T
Protein change:
R215C; ARG279CYS
Links:
UniProtKB: Q0ZGT2#VAR_065478; OMIM: 613121.0005; dbSNP: rs146245480
NCBI 1000 Genomes Browser:
rs146245480
Molecular consequence:
  • NM_001172309.1:c.643C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.3:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.4:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000188814Blueprint Geneticsno assertion criteria providedUncertain significance
(Jan 30, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y.

Am J Hum Genet. 2010 Nov 12;87(5):687-93. doi: 10.1016/j.ajhg.2010.10.002. Epub 2010 Oct 21.

PubMed [citation]
PMID:
20970104
PMCID:
PMC2978958

Details of each submission

From Blueprint Genetics, SCV000188814.1

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

Last Updated: Jul 7, 2021

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