NM_000257.4(MYH7):c.958G>A (p.Val320Met) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Jun 9, 2014)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000148711.4

Allele description [Variation Report for NM_000257.4(MYH7):c.958G>A (p.Val320Met)]

NM_000257.4(MYH7):c.958G>A (p.Val320Met)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
Other names:
p.V320M:GTG>ATG
HGVS:
  • NC_000014.9:g.23430601C>T
  • NG_007884.1:g.10061G>A
  • NM_000257.4:c.958G>AMANE SELECT
  • NP_000248.2:p.Val320Met
  • LRG_384t1:c.958G>A
  • LRG_384:g.10061G>A
  • NC_000014.8:g.23899810C>T
  • NM_000257.2:c.958G>A
  • NM_000257.3:c.958G>A
  • P12883:p.Val320Met
Protein change:
V320M
Links:
UniProtKB: P12883#VAR_020803; dbSNP: rs376897125
NCBI 1000 Genomes Browser:
rs376897125
Molecular consequence:
  • NM_000257.4:c.958G>A - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190441CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationno assertion criteria providedUncertain significance
(Jun 1, 2014)
germlineresearch

SCV000207090Blueprint Geneticsno assertion criteria providedLikely pathogenic
(Jun 9, 2014)
germlineclinical testing

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

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190441

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

Havndrup O, Bundgaard H, Andersen PS, Allan Larsen L, Vuust J, Kjeldsen K, Christiansen M.

Cardiovasc Res. 2003 Feb;57(2):347-57.

PubMed [citation]
PMID:
12566107

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190441.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Blueprint Genetics, SCV000207090.1

#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

Support Center