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NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 15, 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:
RCV002453543.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val)]

NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val)

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.1147C>G (p.Leu383Val)
Other names:
p.L383V:CTG>GTG
HGVS:
  • NC_000011.10:g.47343568G>C
  • NG_007667.1:g.14135C>G
  • NM_000256.3:c.1147C>GMANE SELECT
  • NP_000247.2:p.Leu383Val
  • LRG_386t1:c.1147C>G
  • LRG_386:g.14135C>G
  • LRG_386p1:p.Leu383Val
  • NC_000011.9:g.47365119G>C
  • Q14896:p.Leu383Val
Protein change:
L383V
Links:
UniProtKB: Q14896#VAR_020571; dbSNP: rs11570077
NCBI 1000 Genomes Browser:
rs11570077
Molecular consequence:
  • NM_000256.3:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002613575Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 15, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR.

Am J Hum Genet. 2011 Feb 11;88(2):183-92. doi: 10.1016/j.ajhg.2011.01.011.

PubMed [citation]
PMID:
21310275
PMCID:
PMC3035712

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

Wang J, Wang Y, Zou Y, Sun K, Wang Z, Ding H, Yuan J, Wei W, Hou Q, Wang H, Liu X, Zhang H, Ji Y, Zhou X, Sharma RK, Wang D, Ahmad F, Hui R, Song L.

Eur J Heart Fail. 2014 Sep;16(9):950-7. doi: 10.1002/ejhf.144. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25132132

Details of each submission

From Ambry Genetics, SCV002613575.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024