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NM_000256.3(MYBPC3):c.26-2A>G AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 20, 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:
RCV000621287.5

Allele description [Variation Report for NM_000256.3(MYBPC3):c.26-2A>G]

NM_000256.3(MYBPC3):c.26-2A>G

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.26-2A>G
HGVS:
  • NC_000011.10:g.47351507T>C
  • NG_007667.1:g.6196A>G
  • NG_122461.1:g.262T>C
  • NM_000256.3:c.26-2A>GMANE SELECT
  • LRG_386t1:c.26-2A>G
  • LRG_386:g.6196A>G
  • NC_000011.9:g.47373058T>C
  • c.26-2A>G
Links:
dbSNP: rs376395543
NCBI 1000 Genomes Browser:
rs376395543
Molecular consequence:
  • NM_000256.3:c.26-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

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
SCV000739931Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Sep 20, 2019) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10.

PubMed [citation]
PMID:
15519027

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

Ehlermann P, Weichenhan D, Zehelein J, Steen H, Pribe R, Zeller R, Lehrke S, Zugck C, Ivandic BT, Katus HA.

BMC Med Genet. 2008 Oct 28;9:95. doi: 10.1186/1471-2350-9-95.

PubMed [citation]
PMID:
18957093
PMCID:
PMC2584029
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000739931.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The c.26-2A>G intronic pathogenic mutation results from an A to G substitution two nucleotides upstream from coding exon 2 in the MYBPC3 gene. This mutation has been previously reported in individuals with hypertrophic cardiomyopathy (HCM) and left ventricular non-compaction (LVNC) (Page SP et al. Circ Cardiovasc Genet. 2012;5(2):156-66; Ehlermann P et al. BMC Med Genet. 2008;9:95; Van Driest SL et al. J Am Coll Cardiol. 2004;44(9):1903-10; Sedaghat-Hamedani F et al. Eur. Heart J., 2017 Dec;38:3449-3460; Walsh R et al. Genet. Med., 2017 02;19:192-203). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024