NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 7, 2017
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:: RCV000621325.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter)]

NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter)

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.3294G>A (p.Trp1098Ter)

HGVS:

NC_000011.10:g.47333230C>T
NG_007667.1:g.24473G>A
NM_000256.3:c.3294G>AMANE SELECT
NP_000247.2:p.Trp1098Ter
LRG_386t1:c.3294G>A
LRG_386:g.24473G>A
LRG_386p1:p.Trp1098Ter
NC_000011.9:g.47354781C>T

Protein change:

W1098*

Links:

dbSNP: rs767039057

NCBI 1000 Genomes Browser:

rs767039057

Molecular consequence:

NM_000256.3:c.3294G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000740123	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 7, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20624503, 25351510 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000740123

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 7, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R.

Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30.

PubMed [citation]

PMID:: 20624503

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM.

Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.

PubMed [citation]

PMID:: 25351510
PMCID:: PMC4345808

Details of each submission

From Ambry Genetics, SCV000740123.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.W1098* pathogenic mutation (also known as c.3294G>A), located in coding exon 30 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 3294. This changes the amino acid from a tryptophan to a stop codon within coding exon 30. This alteration has been reported in hypertrophic cardiomyopathy cohorts; however, clinical details were limited (Millat G et al. Eur J Med Genet, 2010 Jul;53:261-7; Lopes LR et al. Heart, 2015 Feb;101:294-301). 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.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine