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NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 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:
RCV001188388.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)]

NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)

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.3358C>T (p.Arg1120Cys)
HGVS:
  • NC_000011.10:g.47332946G>A
  • NG_007667.1:g.24757C>T
  • NM_000256.3:c.3358C>TMANE SELECT
  • NP_000247.2:p.Arg1120Cys
  • LRG_386t1:c.3358C>T
  • LRG_386:g.24757C>T
  • LRG_386p1:p.Arg1120Cys
  • NC_000011.9:g.47354497G>A
Protein change:
R1120C
Links:
dbSNP: rs368721523
NCBI 1000 Genomes Browser:
rs368721523
Molecular consequence:
  • NM_000256.3:c.3358C>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001355444Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 24, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

High-degree atrioventricular block revealing hypertrophic cardiomyopathy related to a mutation in MYBPC3 gene.

Kouakam C, Boulé S, Brigadeau F.

Presse Med. 2019 Jan;48(1 Pt 1):68-71. doi: 10.1016/j.lpm.2018.11.012. Epub 2018 Dec 7. No abstract available.

PubMed [citation]
PMID:
30528150

Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.

Gigli M, Merlo M, Graw SL, Barbati G, Rowland TJ, Slavov DB, Stolfo D, Haywood ME, Dal Ferro M, Altinier A, Ramani F, Brun F, Cocciolo A, Puggia I, Morea G, McKenna WJ, La Rosa FG, Taylor MRG, Sinagra G, Mestroni L.

J Am Coll Cardiol. 2019 Sep 17;74(11):1480-1490. doi: 10.1016/j.jacc.2019.06.072.

PubMed [citation]
PMID:
31514951
PMCID:
PMC6750731
See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001355444.3

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

Description

This missense variant replaces arginine with cysteine at codon 1120 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 an individual affected with hypertrophic cardiomyopathy (PMID: 30528150) and in an individual affected with dilated cardiomyopathy (PMID: 31514951). This variant has been identified in 7/241840 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: Sep 29, 2024