NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) AND Familial hypertrophic cardiomyopathy 20

Clinical significance:Uncertain significance (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000023985.4

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:
Familial hypertrophic cardiomyopathy 20 (CMH20)
Synonyms:
Hypertrophic cardiomyopathy 20
Identifiers:
MONDO: MONDO:0013477; MedGen: C3151267; OMIM: 613876

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045276OMIMno assertion criteria providedPathogenic
(Nov 12, 2010)
germlineliterature only

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

SCV000267418Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Uncertain significance
(Mar 18, 2016)
germlinereference population

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
East Asiangermlineunknown1not providednot providednot providednot providedreference population

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000045276.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 45-year-old Han Chinese man with familial hypertrophic cardiomyopathy (CMH20; 613876), Wang et al. (2010) identified heterozygosity for an 835C-T transition in exon 8 of the NEXN gene, resulting in an arg279-to-cys (R279C) substitution at a highly conserved residue in the coiled-coil domain. The R279C mutation was detected in the proband's affected father and brother, and was also present in his 12-year-old clinically asymptomatic daughter, but was not found in 192 ethnically matched controls. Transfection studies in C2C12 cells showed that mutant nexilin accumulated in the cytoplasm, but binding to alpha-actin (102610) was not altered.

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

From Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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