NM_000256.3(MYBPC3):c.2534_2538delGCGTC (p.Arg845Leufs) AND Familial hypertrophic cardiomyopathy 4

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1997
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000009142.3

Allele description

NM_000256.3(MYBPC3):c.2534_2538delGCGTC (p.Arg845Leufs)

Gene:

MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.2534_2538delGCGTC (p.Arg845Leufs)

HGVS:

NC_000011.10:g.47337455_47337459delGACGC
NM_000256.3:c.2534_2538delGCGTC
NP_000247.2:p.Arg845Leufs
LRG_386t1:c.2534_2538del
LRG_386:g.20244_20248del
LRG_386p1:p.Arg845_Val846delinsLeufs
NC_000011.9:g.47359006_47359010delGACGC
c.2534_2538delGCGTC
p.Arg845LeufsX37
p.R845LfsX37

Links:

OMIM: 600958.0009; dbSNP: rs397515973

NCBI 1000 Genomes Browser:

rs397515973

Molecular consequence:

NM_000256.3:c.2534_2538delGCGTC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Familial hypertrophic cardiomyopathy 4 (CMH4)
Identifiers:: MedGen: C1861862; OMIM: 115197

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029359	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029359

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1997)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, Hainque B, Cruaud C, Gary F, Labeit S, Bouhour JB, Dubourg O, Desnos M, Hagège AA, Trent RJ, Komajda M, Fiszman M, Schwartz K.

Circ Res. 1997 Mar;80(3):427-34.

PubMed [citation]

PMID:: 9048664

Details of each submission

From OMIM, SCV000029359.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

The fifth the of 6 novel mutations in the MYBPC3 gene discovered by Carrier et al. (1997) in French CMH (115197) families was a 5-bp deletion (-GCGTC) in exon 25. The deletion produced a frameshift; the aberrant cDNA identified in lymphocytes encoded 845 normal residues and then 35 novel amino acids, followed by premature stop codon in domain C6 that should produce a truncated protein missing 34% and loosing the C-terminal region containing both the titin (188840)- and myosin (160710)-binding sites.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 31, 2019

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