NM_144573.3(NEXN):c.1063G>C (p.Asp355His) AND Familial hypertrophic cardiomyopathy 1

Clinical significance:Uncertain significance (Last evaluated: Mar 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000584821.1

Allele description [Variation Report for NM_144573.3(NEXN):c.1063G>C (p.Asp355His)]

NM_144573.3(NEXN):c.1063G>C (p.Asp355His)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.3(NEXN):c.1063G>C (p.Asp355His)
HGVS:
  • NC_000001.11:g.77933291G>C
  • NG_016625.1:g.49777G>C
  • NM_001172309.1:c.871G>C
  • NM_144573.3:c.1063G>C
  • NP_001165780.1:p.Asp291His
  • NP_653174.3:p.Asp355His
  • LRG_442t1:c.1063G>C
  • LRG_442:g.49777G>C
  • LRG_442p1:p.Asp355His
  • NC_000001.10:g.78398976G>C
Protein change:
D291H
Links:
dbSNP: rs1553239999
NCBI 1000 Genomes Browser:
rs1553239999
Molecular consequence:
  • NM_001172309.1:c.871G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.3:c.1063G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 1 (CMH1)
Synonyms:
Hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692492Agnes Ginges Centre for Molecular Cardiology,Centenary Institutecriteria provided, single submitter
Uncertain significance
(Mar 9, 2017)
germlineresearch

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Agnes Ginges Centre for Molecular Cardiology,Centenary Institute, SCV000692492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

NEXN Asp355His has not been previously reported in literature. We identified this variant in a HCM proband of European descent. The proband has no family history of HCM or sudden cardiac death. The variant is absent in the 1000 genomes project (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Computational tools SIFT, MutationTaster, and PolyPhen-2 predict this variant to have a deleterious effect. In summary based on this limited evidence, and the weak evidence associating NEXN with an HCM phenotype, we classify NEXN Asp355His as a variant of "uncertain significance".

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

Last Updated: Oct 7, 2021

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