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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208267	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 27, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208267

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 27, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000208267.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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