NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 29, 2016
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:
RCV000587552.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)]

NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)

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.3288del (p.Glu1096fs)
HGVS:
  • NC_000011.10:g.47333236del
  • NG_007667.1:g.24467del
  • LRG_386t1:c.3288del
  • LRG_386:g.24467del
  • LRG_386p1:p.Glu1096fs
  • NC_000011.9:g.47354787del
  • NC_000011.9:g.47354787delC
  • NM_000256.3:c.3288delGMANE SELECT
  • p.E1096DfsX93
  • p.Glu1096AspfsX93
Links:
dbSNP: rs727503172
NCBI 1000 Genomes Browser:
rs727503172

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
SCV000740080Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 29, 2016) 		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

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.

Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, Baars MJ, Wijnaendts LC, Stolte-Dijkstra I, Alders M, van Hagen JM.

J Med Genet. 2006 Oct;43(10):829-32. Epub 2006 May 5.

PubMed [citation]
PMID:
16679492
PMCID:
PMC2563166

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

Kapplinger JD, Landstrom AP, Bos JM, Salisbury BA, Callis TE, Ackerman MJ.

J Cardiovasc Transl Res. 2014 Apr;7(3):347-61. doi: 10.1007/s12265-014-9542-z. Epub 2014 Feb 8.

PubMed [citation]
PMID:
24510615
PMCID:
PMC4849132

Details of each submission

From Ambry Genetics, SCV000740080.5

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

Description

The c.3288delG pathogenic mutation, located in coding exon 30 of the MYBPC3 gene, results from a deletion of one nucleotide at nucleotide position 3288, causing a translational frameshift with a predicted alternate stop codon (p.E1096Dfs*93). This alteration has been reported in individuals with hypertrophic cardiomyopathy (Lekanne Deprez RH et al. J. Med. Genet., 2006 Oct;43:829-32; Kapplinger JD et al. J Cardiovasc Transl Res, 2014 Apr;7:347-61). 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: May 1, 2024