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NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV002444617.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)]

NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)

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.3277G>T (p.Gly1093Cys)
HGVS:
  • NC_000011.10:g.47333247C>A
  • NG_007667.1:g.24456G>T
  • NM_000256.3:c.3277G>TMANE SELECT
  • NP_000247.2:p.Gly1093Cys
  • LRG_386t1:c.3277G>T
  • LRG_386:g.24456G>T
  • LRG_386p1:p.Gly1093Cys
  • NC_000011.9:g.47354798C>A
Protein change:
G1093C
Links:
dbSNP: rs727503173
NCBI 1000 Genomes Browser:
rs727503173
Molecular consequence:
  • NM_000256.3:c.3277G>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
SCV002612081Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 14, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Phenotype-driven molecular autopsy for sudden cardiac death.

Cann F, Corbett M, O'Sullivan D, Tennant S, Hailey H, Grieve JH, Broadhurst P, Rankin R, Dean JC.

Clin Genet. 2017 Jan;91(1):22-29. doi: 10.1111/cge.12778. Epub 2016 May 11.

PubMed [citation]
PMID:
27000522

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]
PMID:
27532257
PMCID:
PMC5116235
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002612081.3

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

Description

The p.G1093C variant (also known as c.3277G>T), located in coding exon 30 of the MYBPC3 gene, results from a G to T substitution at nucleotide position 3277. The glycine at codon 1093 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been detected in clinical hypertrophic cardiomyopathy (HCM) and HCM genetic testing cohorts and was reported to segregate with disease in one small family; however, details were limited (Burns C et al, Circ Cardiovasc Genet. 2017 Aug;10:; Cann F et al, Clin Genet. 2017 01;91:22-29; Walsh R et al, Genet Med. 2017 02;19:192-203). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, 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