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NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 2019
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:
RCV000151100.6

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)]

NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)

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.2249C>T (p.Thr750Met)
HGVS:
  • NC_000011.10:g.47338579G>A
  • NG_007667.1:g.19124C>T
  • NM_000256.3:c.2249C>TMANE SELECT
  • NP_000247.2:p.Thr750Met
  • LRG_386t1:c.2249C>T
  • LRG_386:g.19124C>T
  • LRG_386p1:p.Thr750Met
  • NC_000011.9:g.47360130G>A
Protein change:
T750M
Links:
dbSNP: rs727503189
NCBI 1000 Genomes Browser:
rs727503189
Molecular consequence:
  • NM_000256.3:c.2249C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000198863Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 29, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown22not providednot providednot providedclinical testing

Citations

PubMed

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE, Leren TP.

Clin Genet. 2014 Oct;86(4):355-60. doi: 10.1111/cge.12286. Epub 2013 Oct 23.

PubMed [citation]
PMID:
24111713

Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

Page SP, Kounas S, Syrris P, Christiansen M, Frank-Hansen R, Andersen PS, Elliott PM, McKenna WJ.

Circ Cardiovasc Genet. 2012 Apr 1;5(2):156-66. doi: 10.1161/CIRCGENETICS.111.960831. Epub 2012 Jan 20.

PubMed [citation]
PMID:
22267749
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198863.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (3)

Description

The p.Thr750Met variant in MYBPC3 has previously been reported in 5 individuals with HCM (Page 2012, Berge 2014, LMM data). This variant has also been identified in 0.01% (3/30602) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org) and reported in ClinVar (Variation ID #164086). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: BP4, .

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not provided2not provided

Last Updated: Sep 29, 2024