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NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2024
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:
RCV002388216.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)]

NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)

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.1036C>T (p.Arg346Cys)
HGVS:
  • NC_000011.10:g.47346261G>A
  • NG_007667.1:g.11442C>T
  • NM_000256.3:c.1036C>TMANE SELECT
  • NP_000247.2:p.Arg346Cys
  • LRG_386t1:c.1036C>T
  • LRG_386:g.11442C>T
  • LRG_386p1:p.Arg346Cys
  • NC_000011.9:g.47367812G>A
Protein change:
R346C
Links:
dbSNP: rs1236178301
NCBI 1000 Genomes Browser:
rs1236178301
Molecular consequence:
  • NM_000256.3:c.1036C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002696277Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 22, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

Wang J, Wang Y, Zou Y, Sun K, Wang Z, Ding H, Yuan J, Wei W, Hou Q, Wang H, Liu X, Zhang H, Ji Y, Zhou X, Sharma RK, Wang D, Ahmad F, Hui R, Song L.

Eur J Heart Fail. 2014 Sep;16(9):950-7. doi: 10.1002/ejhf.144. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25132132

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.

Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S; HCMR Investigators., Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H.

Nat Genet. 2021 Feb;53(2):135-142. doi: 10.1038/s41588-020-00764-0. Epub 2021 Jan 25.

PubMed [citation]
PMID:
33495597
PMCID:
PMC8240954

Details of each submission

From Ambry Genetics, SCV002696277.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.R346C variant (also known as c.1036C>T), located in coding exon 12 of the MYBPC3 gene, results from a C to T substitution at nucleotide position 1036. The arginine at codon 346 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been detected in hypertrophic cardiomyopathy cohorts; however, clinical information was limited (Wang J et al. Eur. J. Heart Fail., 2014 Sep;16:950-7; Harper AR et al. Nat Genet. 2021 Feb;53(2):135-142). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024