NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) AND Hypertrophic cardiomyopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 22, 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:: RCV000699273.8

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs)]

NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs)

Gene:

MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs)

HGVS:

NC_000011.10:g.47343555_47343570del
NG_007667.1:g.14141_14156del
NM_000256.3:c.1153_1168delMANE SELECT
NP_000247.2:p.Val385fs
LRG_386t1:c.1153_1168del
LRG_386:g.14141_14156del
LRG_386p1:p.Val385fs
NC_000011.9:g.47365098_47365113del
NC_000011.9:g.47365106_47365121del
NM_000256.3:c.1153_1168delGTGGAACTGGCTGACCMANE SELECT

Protein change:

V385fs

Links:

dbSNP: rs869025465

NCBI 1000 Genomes Browser:

rs869025465

Molecular consequence:

NM_000256.3:c.1153_1168del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000827975	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 22, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15114369, 28615295, 19574547, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000827975

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 22, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Pedersen AK, Kjeldsen K, Christiansen M.

Eur J Hum Genet. 2004 Aug;12(8):673-7.

PubMed [citation]

PMID:: 15114369

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Ross SB, Bagnall RD, Ingles J, Van Tintelen JP, Semsarian C.

Circ Cardiovasc Genet. 2017 Jun;10(3). doi:pii: e001671. 10.1161/CIRCGENETICS.116.001671.

PubMed [citation]

PMID:: 28615295

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000827975.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

ClinVar contains an entry for this variant (Variation ID: 222706). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 15114369, 28615295). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val385Metfs*16) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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