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NM_000256.3(MYBPC3):c.1112C>T (p.Pro371Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 27, 2020
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:
RCV000158332.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1112C>T (p.Pro371Leu)]

NM_000256.3(MYBPC3):c.1112C>T (p.Pro371Leu)

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.1112C>T (p.Pro371Leu)
Other names:
p.P371L:CCG>CTG
HGVS:
  • NC_000011.10:g.47343603G>A
  • NG_007667.1:g.14100C>T
  • NM_000256.3:c.1112C>TMANE SELECT
  • NP_000247.2:p.Pro371Leu
  • LRG_386t1:c.1112C>T
  • LRG_386:g.14100C>T
  • LRG_386p1:p.Pro371Leu
  • NC_000011.9:g.47365154G>A
Protein change:
P371L
Links:
dbSNP: rs397515887
NCBI 1000 Genomes Browser:
rs397515887
Molecular consequence:
  • NM_000256.3:c.1112C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208267GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 27, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208267.10

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

Description

Identified in patients with cardiomyopathy in the published literature (Walsh et al., 2017; Ito et al., 2017; Li et al., 2018); At the protein level, in silico analysis supports that this missense variant has a deleterious effect on protein structure/function; At the mRNA level, in-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27532257, 28679633, 30371277, 31397097)

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

Last Updated: Sep 29, 2024