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NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 1, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004018779.1

Allele description [Variation Report for NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)]

NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)

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.4078G>A (p.Val1360Ile)
HGVS:
  • NC_000014.9:g.23418301C>T
  • NG_007884.1:g.22361G>A
  • NM_000257.4:c.4078G>AMANE SELECT
  • NP_000248.2:p.Val1360Ile
  • LRG_384t1:c.4078G>A
  • LRG_384:g.22361G>A
  • NC_000014.8:g.23887510C>T
  • NM_000257.2:c.4078G>A
  • NM_000257.3:c.4078G>A
  • c.4078G>A
Protein change:
V1360I
Links:
dbSNP: rs373231077
NCBI 1000 Genomes Browser:
rs373231077
Molecular consequence:
  • NM_000257.4:c.4078G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005033926Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 1, 2024) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

Su M, Wang J, Kang L, Wang Y, Zou Y, Feng X, Wang D, Ahmad F, Zhou X, Hui R, Song L.

Int J Mol Sci. 2014 May 26;15(6):9302-13. doi: 10.3390/ijms15069302.

PubMed [citation]
PMID:
24865491
PMCID:
PMC4100095

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

Wang J, Wang Y, Zou Y, Sun K, Wang Z, Ding H, Yuan J, Wei W, Hou Q, Wang H, Liu X, Zhang H, Ji Y, Zhou X, Sharma RK, Wang D, Ahmad F, Hui R, Song L.

Eur J Heart Fail. 2014 Sep;16(9):950-7. doi: 10.1002/ejhf.144. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25132132
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV005033926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024