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NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) AND Cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2011
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:
RCV000158483.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3327del (p.Met1110fs)]

NM_000256.3(MYBPC3):c.3327del (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.3327del (p.Met1110fs)
HGVS:
  • NC_000011.10:g.47333198del
  • NG_007667.1:g.24506del
  • NM_000256.3:c.3327delMANE SELECT
  • NP_000247.2:p.Met1110fs
  • LRG_386t1:c.3327del
  • LRG_386:g.24506del
  • LRG_386p1:p.Met1110fs
  • NC_000011.9:g.47354749del
  • NM_000256.3:c.3327delCMANE SELECT
  • p.M1110WfsX79
Protein change:
M1110fs
Links:
dbSNP: rs730880719
NCBI 1000 Genomes Browser:
rs730880719
Molecular consequence:
  • NM_000256.3:c.3327del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208418GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Dec 20, 2011) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208418.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A deletion of a single “C” nucleotide in exon 30 of the MYBPC3 gene. The normal sequence with the base that is deleted in braces is: AGAC{C}ATGG. This mutation is denoted c.3327delC at the cDNA level or p.Met1110TrpfsX79 at the protein level. The c.3327delC mutation in the MYBPC3 gene causes a shift in reading frame at codon Methionine 1110, changing it to a Tryptophan, and creates a premature Stop codon at position 79 of the new reading frame. Although this mutation has not been reported previously to our knowledge, it is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay, and therefore is interpreted to be a disease-causing mutation.The variant is found in HCM panel(s).

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

Last Updated: Jun 23, 2024