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NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 8, 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:
RCV000619311.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)]

NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)

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.3181C>T (p.Gln1061Ter)
Other names:
p.Q1061*:CAG>TAG
HGVS:
  • NC_000011.10:g.47333566G>A
  • NG_007667.1:g.24137C>T
  • NM_000256.3:c.3181C>TMANE SELECT
  • NP_000247.2:p.Gln1061Ter
  • LRG_386t1:c.3181C>T
  • LRG_386:g.24137C>T
  • LRG_386p1:p.Gln1061Ter
  • NC_000011.9:g.47355117G>A
  • c.3181C>T
  • p.Gln1061X
Protein change:
Q1061*
Links:
dbSNP: rs397516005
NCBI 1000 Genomes Browser:
rs397516005
Molecular consequence:
  • NM_000256.3:c.3181C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000739930Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 8, 2023) 		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

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, Peltola P, Pihlajamäki J, Vauhkonen I, Laakso M.

J Mol Med (Berl). 2002 Jul;80(7):412-22. Epub 2002 Apr 11.

PubMed [citation]
PMID:
12110947

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.

Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, Melin J, Nieminen MS, Laakso M, Kuusisto J; FinHCM study group, Kervinen H, Mustonen J, Juvonen J, Niemi M, Uusimaa P, Huttunen M, Kotila M, Pietilä M.

Ann Med. 2013 Feb;45(1):85-90. doi: 10.3109/07853890.2012.671534. Epub 2012 Apr 2.

PubMed [citation]
PMID:
22462493

Details of each submission

From Ambry Genetics, SCV000739930.6

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

Description

The p.Q1061* pathogenic mutation (also known as c.3181C>T), located in coding exon 29 of the MYBPC3 gene, results from a C to T substitution at nucleotide position 3181. This changes the amino acid from a glutamine to a stop codon within coding exon 29. This is the most prevalent mutation reported to cause hypertrophic cardiomyopathy in the Finnish population and has shown a founder effect (Jääskeläinen P et al. J Mol Med (Berl). 2002;80(7):412-22; Jääskeläinen P et al. Ann Med. 2013;45(1):85-90). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 20, 2024