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NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Jun 23, 2020
Accession:
VCV000042502.5
Variation ID:
42502
Description:
single nucleotide variant
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NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)

Allele ID
51672
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 47346258 (GRCh38) GRCh38 UCSC
11: 47367809 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.47346258C>T
NC_000011.9:g.47367809C>T
NG_007667.1:g.11445G>A
... more HGVS
Protein change
G347S
Other names
-
Canonical SPDI
NC_000011.10:47346257:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA009719
dbSNP: rs397515884
VarSome
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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 Aug 2, 2019 RCV000035367.3
Uncertain significance 1 criteria provided, single submitter Jun 23, 2020 RCV001344496.1
Likely pathogenic 1 no assertion criteria provided May 22, 2014 RCV000157306.1
Uncertain significance 2 no assertion criteria provided - RCV001699104.2
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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
2407 2422

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 02, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059015.6
Submitted: (Jun 03, 2020)
Evidence details
Comment:
The p.Gly347Ser variant in MYBPC3 has been identified in 1 individual with DCM (LMM data) and 3/112736 European chromosomes by gnomAD (https://gnomad.broadinstitute.org). Computational prediction tools … (more)
Uncertain significance
(Jun 23, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001538554.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glycine with serine at codon 347 of the MYBPC3 protein (p.Gly347Ser). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(May 22, 2014)
no assertion criteria provided
Method: clinical testing
Primary familial hypertrophic cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000207038.1
Submitted: (Feb 02, 2015)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925172.1
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968222.1
Submitted: (Sep 21, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs397515884...

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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 Oct 07, 2021