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NM_000256.3(MYBPC3):c.1217G>A (p.Ser406Asn) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 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:
RCV003769969.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1217G>A (p.Ser406Asn)]

NM_000256.3(MYBPC3):c.1217G>A (p.Ser406Asn)

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.1217G>A (p.Ser406Asn)
HGVS:
  • NC_000011.10:g.47343498C>T
  • NG_007667.1:g.14205G>A
  • NM_000256.3:c.1217G>AMANE SELECT
  • NP_000247.2:p.Ser406Asn
  • LRG_386t1:c.1217G>A
  • LRG_386:g.14205G>A
  • LRG_386p1:p.Ser406Asn
  • NC_000011.9:g.47365049C>T
  • NC_000011.9:g.47365049C>T
Protein change:
S406N
Links:
dbSNP: rs1053965064
NCBI 1000 Genomes Browser:
rs1053965064
Molecular consequence:
  • NM_000256.3:c.1217G>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004672291Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 26, 2023) 		germlineclinical testing

PubMed (3)
[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

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E.

Circ Cardiovasc Genet. 2017 Apr;10(2). doi:pii: e001584. 10.1161/CIRCGENETICS.116.001584.

PubMed [citation]
PMID:
28356264

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM.

Genet Med. 2021 Jul;23(7):1281-1287. doi: 10.1038/s41436-021-01134-9. Epub 2021 Mar 29.

PubMed [citation]
PMID:
33782553
PMCID:
PMC8257482
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004672291.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

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. 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. ClinVar contains an entry for this variant (Variation ID: 921333). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 28356264, 33782553). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 406 of the MYBPC3 protein (p.Ser406Asn).

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

Last Updated: Sep 29, 2024