NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 11, 2019
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:: RCV001002624.8

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)]

NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)

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.2682G>T (p.Glu894Asp)

HGVS:

NC_000011.10:g.47335932C>A
NG_007667.1:g.21771G>T
NM_000256.3:c.2682G>TMANE SELECT
NP_000247.2:p.Glu894Asp
LRG_386t1:c.2682G>T
LRG_386:g.21771G>T
LRG_386p1:p.Glu894Asp
NC_000011.9:g.47357483C>A

Protein change:

E894D

Links:

dbSNP: rs369289966

NCBI 1000 Genomes Browser:

rs369289966

Molecular consequence:

NM_000256.3:c.2682G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001160607	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jun 11, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001160607

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jun 11, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160607.1

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

Description

The MYBPC3 c.2682G>T; p.Glu894Asp variant (rs369289966), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on three alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The glutamic acid at codon 894 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Glu894Asp variant is uncertain at this time.

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

Last Updated: Apr 20, 2024

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