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NM_000257.4(MYH7):c.505A>G (p.Arg169Gly)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Feb 3, 2016
Accession:
VCV000177664.1
Variation ID:
177664
Description:
single nucleotide variant
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NM_000257.4(MYH7):c.505A>G (p.Arg169Gly)

Allele ID
175657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 23432504 (GRCh38) GRCh38 UCSC
14: 23901713 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.23901713T>C
NC_000014.9:g.23432504T>C
NM_000257.4:c.505A>G MANE Select NP_000248.2:p.Arg169Gly missense
... more HGVS
Protein change
R169G
Other names
-
Canonical SPDI
NC_000014.9:23432503:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA015620
dbSNP: rs727504267
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Feb 3, 2016 RCV000154253.2
Likely pathogenic 1 no assertion criteria provided Feb 9, 2015 RCV000223700.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH7 No evidence available No evidence available GRCh38
GRCh37
2444 2958

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 09, 2015)
no assertion criteria provided
Method: clinical testing
Not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280358.1
Submitted: (May 06, 2016)
Evidence details
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Likely pathogenic
(Feb 03, 2016)
no assertion criteria provided
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000203908.3
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Implications of hypertrophic cardiomyopathy transmitted by sperm donation. Maron BJ JAMA 2009 PMID: 19843903

Text-mined citations for rs727504267...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021