NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) AND Hypertrophic cardiomyopathy 4

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000201451.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)]

NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)

Gene:

MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)

HGVS:

NC_000011.10:g.47337727C>T
NG_007667.1:g.19976G>A
NM_000256.3:c.2376G>AMANE SELECT
NP_000247.2:p.Trp792Ter
LRG_386t1:c.2376G>A
LRG_386:g.19976G>A
LRG_386p1:p.Trp792Ter
NC_000011.9:g.47359278C>T

Protein change:

W792*

Links:

dbSNP: rs863225112

NCBI 1000 Genomes Browser:

rs863225112

Molecular consequence:

NM_000256.3:c.2376G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy 4
Synonyms:: Familial hypertrophic cardiomyopathy 4
Identifiers:: MONDO: MONDO:0007268; MedGen: C1861862; OMIM: 115197

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256183	Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)	criteria provided, single submitter (LGCM Criteria August 2015)	Likely pathogenic	germline	clinical testing	LGCM_Criteria_August_2015 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256183

Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)

criteria provided, single submitter

(LGCM Criteria August 2015)

Likely pathogenic

germline

clinical testing

LGCM_Criteria_August_2015

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256183.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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