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NM_000256.3(MYBPC3):c.2542_2543delinsTG (p.Ala848Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 2022
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:
RCV002458582.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2542_2543delinsTG (p.Ala848Trp)]

NM_000256.3(MYBPC3):c.2542_2543delinsTG (p.Ala848Trp)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.2542_2543delinsTG (p.Ala848Trp)
HGVS:
  • NC_000011.10:g.47337450_47337451delinsCA
  • NG_007667.1:g.20252_20253delinsTG
  • NM_000256.3:c.2542_2543delinsTGMANE SELECT
  • NP_000247.2:p.Ala848Trp
  • LRG_386t1:c.2542_2543delinsTG
  • LRG_386:g.20252_20253delinsTG
  • LRG_386p1:p.Ala848Trp
  • NC_000011.9:g.47359001_47359002delinsCA
  • NM_000256.3:c.2542_2543delGCinsTGMANE SELECT
Protein change:
A848W
Links:
dbSNP: rs2142855225
NCBI 1000 Genomes Browser:
rs2142855225
Molecular consequence:
  • NM_000256.3:c.2542_2543delinsTG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002739353Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002739353.3

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

Description

The c.2542_2543delGCinsTG variant (also known as p.A848W), located in coding exon 25 of the MYBPC3 gene, results from an in-frame deletion of GC and insertion of TG at nucleotide positions 2542 to 2543. This results in the substitution of the alanine residue for a tryptophan residue at codon 848, an amino acid with dissimilar properties. Alternate amino acid substitutions at this codon, p.A848E and A848V, have been reported in hypertrophic cardiomyopathy cohorts; however, clinical details were limited (Calore C et al. J. Med. Genet., 2015 May;52:338-47; Burns C et al. Circ Cardiovasc Genet, 2017 Aug;10:[Epub ahead of print]; Meyer T et al. Gene, 2013 Sep;527:416-20). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024