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NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) AND Hypertrophic cardiomyopathy 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 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:
RCV001104921.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)]

NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)

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.2783C>T (p.Ser928Leu)
HGVS:
  • NC_000011.10:g.47335164G>A
  • NG_007667.1:g.22539C>T
  • NM_000256.3:c.2783C>TMANE SELECT
  • NP_000247.2:p.Ser928Leu
  • LRG_386t1:c.2783C>T
  • LRG_386:g.22539C>T
  • LRG_386p1:p.Ser928Leu
  • NC_000011.9:g.47356715G>A
  • p.(Ser928Leu)
Protein change:
S928L
Links:
dbSNP: rs773819168
NCBI 1000 Genomes Browser:
rs773819168
Molecular consequence:
  • NM_000256.3:c.2783C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001261827Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.

Brito D, Miltenberger-Miltenyi G, Vale Pereira S, Silva D, Diogo AN, Madeira H.

Rev Port Cardiol. 2012 Sep;31(9):577-87. doi: 10.1016/j.repc.2011.12.020. Epub 2012 Aug 2.

PubMed [citation]
PMID:
22857948

Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?

Brito D, Madeira H.

Rev Port Cardiol. 2005 Sep;24(9):1137-46. Review. English, Portuguese.

PubMed [citation]
PMID:
16335287
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001261827.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: May 7, 2024