NM_000257.4(MYH7):c.958G>A (p.Val320Met) AND Familial hypertrophic cardiomyopathy 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 10, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000201440.2

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:
6

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
SCV000256154Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)criteria provided, single submitter
Likely pathogenicgermlineclinical testing

LGCM_Criteria_August_2015,

Citation Link,

SCV001423552HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI_GTcriteria provided, single submitter
Likely pathogenic
(Mar 10, 2020)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not providednot providednot providednot providedclinical testing
not providedunknownunknown1not providednot provided1not providedresearch

Citations

PubMed

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 Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256154.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI_GT, SCV001423552.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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