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NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 2023
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:
RCV001178370.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)]

NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)
Other names:
p.Ala851Val
HGVS:
  • NC_000011.10:g.47337441G>A
  • NG_007667.1:g.20262C>T
  • NM_000256.3:c.2552C>TMANE SELECT
  • NP_000247.2:p.Ala851Val
  • LRG_386t1:c.2552C>T
  • LRG_386:g.20262C>T
  • LRG_386p1:p.Ala851Val
  • NC_000011.9:g.47358992G>A
Protein change:
A851V
Links:
dbSNP: rs774172488
NCBI 1000 Genomes Browser:
rs774172488
Molecular consequence:
  • NM_000256.3:c.2552C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001342802Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 16, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.

J Med Genet. 2005 Oct;42(10):e59.

PubMed [citation]
PMID:
16199542
PMCID:
PMC1735926

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.

Maron BJ, Maron MS, Semsarian C.

Heart Rhythm. 2012 Jan;9(1):57-63. doi: 10.1016/j.hrthm.2011.08.009. Epub 2011 Aug 9.

PubMed [citation]
PMID:
21839045
See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001342802.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This missense variant replaces alanine with valine at codon 851 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individuals affected with severe hypertrophic cardiomyopathy (PMID: 16199542, 21839045). Both of these individuals also carried a pathogenic variant (p.Glu542Gln) in the same gene. This variant has been identified in 17/277812 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 24, 2024