NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 2, 2021
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:: RCV001582509.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg)]

NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg)

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>G (p.Pro371Arg)

HGVS:

NC_000011.10:g.47343603G>C
NG_007667.1:g.14100C>G
NM_000256.3:c.1112C>GMANE SELECT
NP_000247.2:p.Pro371Arg
LRG_386t1:c.1112C>G
LRG_386:g.14100C>G
LRG_386p1:p.Pro371Arg
NC_000011.9:g.47365154G>C
c.1112C>G

Protein change:

P371R

Links:

dbSNP: rs397515887

NCBI 1000 Genomes Browser:

rs397515887

Molecular consequence:

NM_000256.3:c.1112C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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PREDICTED: Canis lupus familiaris 5-hydroxytryptamine receptor 1E (HTR1E), trans...
PREDICTED: Canis lupus familiaris 5-hydroxytryptamine receptor 1E (HTR1E), transcript variant X1, mRNA
gi|1239930539|ref|XM_022426325.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001820190	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 2, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001820190

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 2, 2021)

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, SCV001820190.1

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

Description

Reported in conjunction with the c.3192dupC pathogenic variant in the MYBPC3 gene in multiple individuals in association with HCM referred for genetic testing at GeneDx and in published literature (Girolami et al., 2010; Olivotto et al., 2011; Calore et al., 2015; Rubattu et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect This variant is associated with the following publications: (PMID: 28986452, 27600940, 28679633, 25740977, 21835320, 20359594, 27483260)

#	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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