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NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2024
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:
RCV002390378.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)]

NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)

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.1457G>A (p.Trp486Ter)
Other names:
p.W486*:TGG>TAG
HGVS:
  • NC_000011.10:g.47342830C>T
  • NG_007667.1:g.14873G>A
  • NM_000256.3:c.1457G>AMANE SELECT
  • NP_000247.2:p.Trp486Ter
  • LRG_386t1:c.1457G>A
  • LRG_386:g.14873G>A
  • LRG_386p1:p.Trp486Ter
  • NC_000011.9:g.47364381C>T
Protein change:
W486*
Links:
dbSNP: rs730880542
NCBI 1000 Genomes Browser:
rs730880542
Molecular consequence:
  • NM_000256.3:c.1457G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002695900Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 18, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]
PMID:
27532257
PMCID:
PMC5116235

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

Viswanathan SK, Sanders HK, McNamara JW, Jagadeesan A, Jahangir A, Tajik AJ, Sadayappan S.

PLoS One. 2017;12(11):e0187948. doi: 10.1371/journal.pone.0187948.

PubMed [citation]
PMID:
29121657
PMCID:
PMC5679632

Details of each submission

From Ambry Genetics, SCV002695900.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.W486* pathogenic mutation (also known as c.1457G>A), located in coding exon 16 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 1457. This changes the amino acid from a tryptophan to a stop codon within coding exon 16. This alteration has been reported in association with hypertrophic cardiomyopathy (HCM) (Walsh R et al. Genet. Med., 2017 02;19:192-203; Viswanathan SK et al. PLoS ONE, 2017 Nov;12:e0187948). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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

Last Updated: Sep 29, 2024