NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000158444.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)]

NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)

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.2429G>T (p.Arg810Leu)
Other names:
p.R810L:CGC>CTC
HGVS:
  • NC_000011.10:g.47337564C>A
  • NG_007667.1:g.20139G>T
  • NM_000256.3:c.2429G>TMANE SELECT
  • NP_000247.2:p.Arg810Leu
  • LRG_386t1:c.2429G>T
  • LRG_386:g.20139G>T
  • LRG_386p1:p.Arg810Leu
  • NC_000011.9:g.47359115C>A
Protein change:
R810L
Links:
dbSNP: rs375675796
NCBI 1000 Genomes Browser:
rs375675796
Molecular consequence:
  • NM_000256.3:c.2429G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000208379GeneDxcriteria provided, single submitter
Likely pathogenic
(Jan 26, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208379.12

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

Description

The R810L likely pathogenic variant in the MYBPC3 gene has been previously published in association with HCM (Millat et al., 2010; Olivotto et al., 2011). Millat et al. (2010) originally reported R810L in an individual with HCM who also harbored a second variant (R1022P) in the MYBPC3 gene. Olivotto et al. (2011) identified R810L independently in an individual with HCM. The R810L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). R810L is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Lastly, a missense variant in the same residue (R810H) and missense variants in nearby residues (G805S, I807N, K811R) have been reported in Human Gene Mutation Database in association with HCM (Stenson et al., 2014), further supporting the functional importance of this residue and region of the protein.

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

Last Updated: Oct 7, 2021

Support Center