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NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2014
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:
RCV000151142.5

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)]

NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)

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.1213A>G (p.Met405Val)
HGVS:
  • NC_000011.10:g.47343502T>C
  • NG_007667.1:g.14201A>G
  • NM_000256.3:c.1213A>GMANE SELECT
  • NP_000247.2:p.Met405Val
  • LRG_386t1:c.1213A>G
  • LRG_386:g.14201A>G
  • LRG_386p1:p.Met405Val
  • NC_000011.9:g.47365053T>C
Protein change:
M405V
Links:
dbSNP: rs727503207
NCBI 1000 Genomes Browser:
rs727503207
Molecular consequence:
  • NM_000256.3:c.1213A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000198928Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 29, 2014) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198928.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The Met405Val v ariant in MYBPC3 has been previously reported in 1 adult with HCM (Crehalet 2012 ) and was identified by our laboratory in 2 individuals with HCM (LMM unpublishe d data). This variant was absent from large population studies. Methionine (Met) at position 405 is not conserved in evolutionarily distant species and the chan ge to valine (Val) is present in several birds and reptiles. However, computatio nal prediction tools and in vitro studies (Crehalet 2012) suggest this variant m ay lead to the creation of a novel splice site, which could result in a truncate d or absent protein. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the Met405Val variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Sep 29, 2024