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NM_000256.3(MYBPC3):c.3328del (p.Met1110fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 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:
RCV003375491.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3328del (p.Met1110fs)]

NM_000256.3(MYBPC3):c.3328del (p.Met1110fs)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs)
HGVS:
  • NC_000011.10:g.47333196del
  • NG_007667.1:g.24507del
  • NM_000256.3:c.3328delMANE SELECT
  • NP_000247.2:p.Met1110fs
  • LRG_386t1:c.3328del
  • LRG_386:g.24507del
  • LRG_386p1:p.Met1110fs
  • NC_000011.9:g.47354747del
  • NM_000256.3:c.3328delAMANE SELECT
Protein change:
M1110fs
Links:
dbSNP: rs2142850736
NCBI 1000 Genomes Browser:
rs2142850736
Molecular consequence:
  • NM_000256.3:c.3328del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004096192Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 14, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, et al.

PLoS One. 2017;12(8):e0181465. doi: 10.1371/journal.pone.0181465.

PubMed [citation]
PMID:
28771489
PMCID:
PMC5542623

Details of each submission

From Ambry Genetics, SCV004096192.2

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

Description

The c.3328delA pathogenic mutation, located in coding exon 30 of the MYBPC3 gene, results from a deletion of one nucleotide at nucleotide position 3328, causing a translational frameshift with a predicted alternate stop codon (p.M1110Wfs*79). This variant has been detected in individuals from a hypertrophic cardiomyopathy cohort (Mademont-Soler I et al. PLoS One, 2017 Aug;12:e0181465). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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: Sep 29, 2024