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NM_000256.3(MYBPC3):c.2382del (p.Pro795fs) AND Cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 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:
RCV000158477.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)]

NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)

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.2382del (p.Pro795fs)
HGVS:
  • NC_000011.10:g.47337721del
  • NG_007667.1:g.19982del
  • NM_000256.3:c.2382delMANE SELECT
  • NP_000247.2:p.Pro795fs
  • LRG_386t1:c.2382del
  • LRG_386:g.19982del
  • LRG_386p1:p.Pro795fs
  • NC_000011.9:g.47359272del
  • NM_000256.3:c.2382delGMANE SELECT
  • p.P795LfsX27
Protein change:
P795fs
Links:
dbSNP: rs730880714
NCBI 1000 Genomes Browser:
rs730880714
Molecular consequence:
  • NM_000256.3:c.2382del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208412GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 17, 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, SCV000208412.2

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

Description

A deletion of 1 nucleotide (G) in exon 24 of the MYBPC3 gene. The normal sequence with the base that is deleted in braces is: AGCC{G}CCTG. This mutation is denoted c.2382delG at the cDNA level or p.Pro795LeufsX27 at the protein level. The c.2382delG mutation in the MYBPC3 gene (also reported as P794 fs/26 due to alternative nomenclature) has been reported previously in association with HCM, and this mutation was absent from 400 control alleles (Van Driest et al., 2004). The c.2382delG mutation causes a shift in reading frame starting at codon Proline 795, changing it to a Leucine, and creates a premature stop codon at position 27 of the new reading frame. This mutation is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay. The variant is found in HCM panel(s).

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

Last Updated: Sep 29, 2024