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NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 20, 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:
RCV000618768.10

Allele description [Variation Report for NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)]

NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)

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.833G>A (p.Gly278Glu)
Other names:
p.G278E:GGA>GAA
HGVS:
  • NC_000011.10:g.47347669C>T
  • NG_007667.1:g.10034G>A
  • NM_000256.3:c.833G>AMANE SELECT
  • NP_000247.2:p.Gly278Glu
  • NP_000247.2:p.Gly278Glu
  • LRG_386t1:c.833G>A
  • LRG_386:g.10034G>A
  • LRG_386p1:p.Gly278Glu
  • NC_000011.9:g.47369220C>T
  • Q14896:p.Gly278Glu
  • c.833G>A
Protein change:
G278E
Links:
UniProtKB: Q14896#VAR_019891; dbSNP: rs147315081
NCBI 1000 Genomes Browser:
rs147315081
Molecular consequence:
  • NM_000256.3:c.833G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736385Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Benign
(Oct 20, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000736385.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024