NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 18, 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:: RCV000522511.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)]

NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)

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.362C>T (p.Pro121Leu)

HGVS:

NC_000011.10:g.47350546G>A
NG_007667.1:g.7157C>T
NM_000256.3:c.362C>TMANE SELECT
NP_000247.2:p.Pro121Leu
LRG_386t1:c.362C>T
LRG_386:g.7157C>T
LRG_386p1:p.Pro121Leu
NC_000011.9:g.47372097G>A

Protein change:

P121L

Links:

dbSNP: rs551888783

NCBI 1000 Genomes Browser:

rs551888783

Molecular consequence:

NM_000256.3:c.362C>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
SCV000619318	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jul 18, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000619318

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jul 18, 2017)

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, SCV000619318.2

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

Description

A variant of uncertain significance has been identified in the MYBPC3 gene. The P121L variant has not been published as pathogenic or benign in association with cardiomyopathy to our knowledge. This variant is observed in 1/1790 (0.06%) alleles from individuals of East Asian ancestry and in 2/8480 alleles from individuals of South Asian ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P121L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species and leucine (L) is the wild-type residue at this position in multiple mammalian species. Additionally, in silico analysis predicts this variant likely does not alter the protein structure/function.

#	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: May 1, 2024

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