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NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000161315.5
Variation ID:
161315
Description:
single nucleotide variant
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NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)

Allele ID
171143
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 47347891 (GRCh38) GRCh38 UCSC
11: 47369442 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.47369442C>T
NC_000011.10:g.47347891C>T
NM_000256.3:c.787G>A NP_000247.2:p.Gly263Arg missense
... more HGVS
Protein change
G263R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00009
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA015857
UniProtKB: Q14896#VAR_042740
dbSNP: rs373730381
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 27, 2016 RCV000412865.1
Uncertain significance 1 criteria provided, single submitter Sep 20, 2018 RCV000528899.2
Uncertain significance 1 criteria provided, single submitter Oct 20, 2017 RCV000617282.1
Uncertain significance 1 criteria provided, single submitter Jun 2, 2017 RCV000770378.1
Uncertain significance 1 criteria provided, single submitter May 28, 2019 RCV000988551.1
Uncertain significance 1 no assertion criteria provided Jun 1, 2014 RCV000148690.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYBPC3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1593 1606

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901819.1
Submitted: (Apr 30, 2018)
Evidence details
Uncertain significance
(Sep 20, 2018)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000623621.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces glycine with arginine at codon 263 of the MYBPC3 protein (p.Gly263Arg). The glycine residue is highly conserved and there is a ... (more)
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Familial hypertrophic cardiomyopathy 4
Allele origin: unknown
Mendelics
Accession: SCV001138315.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(Oct 20, 2017)
criteria provided, single submitter
Method: clinical testing
cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000740241.2
Submitted: (Jul 30, 2018)
Evidence details
Publications
PubMed (4)
Comment:
Lines of evidence used in support of classification: Insufficient evidence
Uncertain significance
(May 27, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490635.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the MYBPC3 gene. The Gly263Arg variant has been reported as a de novo variant in one ... (more)
Uncertain significance
(Jun 01, 2014)
no assertion criteria provided
Method: research
Cardiomyopathy, hypertrophic
(Autosomal dominant inheritance)
Allele origin: germline
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190417.1
Submitted: (Aug 28, 2014)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
Evidence details

Citations for this variant

Title Author Journal Year Link
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Amendola LM Genome research 2015 PMID: 25637381
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. Kapplinger JD Journal of cardiovascular translational research 2014 PMID: 24510615
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Andreasen C European journal of human genetics : EJHG 2013 PMID: 23299917
Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Song L Clinica chimica acta; international journal of clinical chemistry 2005 PMID: 15563892

Record last updated Jan 09, 2020