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NM_000256.3(MYBPC3):c.1880C>T (p.Ala627Val) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 5, 2023
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:
RCV001915919.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1880C>T (p.Ala627Val)]

NM_000256.3(MYBPC3):c.1880C>T (p.Ala627Val)

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.1880C>T (p.Ala627Val)
HGVS:
  • NC_000011.10:g.47341155G>A
  • NG_007667.1:g.16548C>T
  • NM_000256.3:c.1880C>TMANE SELECT
  • NP_000247.2:p.Ala627Val
  • LRG_386t1:c.1880C>T
  • LRG_386:g.16548C>T
  • LRG_386p1:p.Ala627Val
  • NC_000011.9:g.47362706G>A
Protein change:
A627V
Links:
dbSNP: rs1352376969
NCBI 1000 Genomes Browser:
rs1352376969
Molecular consequence:
  • NM_000256.3:c.1880C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

Recent activity

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  • hypothetical protein L917_13558 [Phytophthora nicotianae]
    hypothetical protein L917_13558 [Phytophthora nicotianae]
    gi|568013000|gb|ETL87177.1||gnl|WGS |L917_13558T0
    Protein
  • dna-directed rna polymerase iii subunit rpc3 [Nannochloropsis gaditana]
    dna-directed rna polymerase iii subunit rpc3 [Nannochloropsis gaditana]
    gi|585111022|gb|EWM28604.1||gnl|WGS |Naga_100009g89.647
    Protein
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    Legal Guardians
    A legal concept for individuals who are designated to act on behalf of persons who are considered incapable of acting in their own behalf, e.g., minors and persons found to be...<br/>Year introduced: 1978
    MeSH
  • Medication Review
    Medication Review
    A structured evaluation of a patient‘s medicines with the aim of optimizing medicines use and improving health outcomes, detecting drug related problems and recommending inter...<br/>Year introduced: 2022
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002181059Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 5, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.

García-Castro M, Reguero JR, Alvarez V, Batalla A, Soto MI, Albaladejo V, Coto E.

Int J Cardiol. 2005 Jul 20;102(3):501-7. Epub 2004 Sep 23.

PubMed [citation]
PMID:
16004897

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002181059.3

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

Description

This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 627 of the MYBPC3 protein (p.Ala627Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 16004897; Invitae). ClinVar contains an entry for this variant (Variation ID: 1406651). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024