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NC_000011.9:g.(?_47353422)_(47436914_?)del AND Hypertrophic cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 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:
RCV004580107.2

Allele description [Variation Report for NC_000011.9:g.(?_47353422)_(47436914_?)del]

NC_000011.9:g.(?_47353422)_(47436914_?)del

Genes:
SPI1:Spi-1 proto-oncogene [Gene - OMIM - HGNC]
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
SLC39A13:solute carrier family 39 member 13 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p11.2
Genomic location:
Chr11: 47353422 - 47436914 (on Assembly GRCh37)
Preferred name:
NC_000011.9:g.(?_47353422)_(47436914_?)del
HGVS:
NC_000011.9:g.(?_47353422)_(47436914_?)del

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
SCV005062615Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 6, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.

Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B.

Hum Mutat. 2019 Aug;40(8):1101-1114. doi: 10.1002/humu.23757. Epub 2019 Apr 24.

PubMed [citation]
PMID:
30924982

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

Marston S, Copeland O, Jacques A, Livesey K, Tsang V, McKenna WJ, Jalilzadeh S, Carballo S, Redwood C, Watkins H.

Circ Res. 2009 Jul 31;105(3):219-22. doi: 10.1161/CIRCRESAHA.109.202440. Epub 2009 Jul 2.

PubMed [citation]
PMID:
19574547
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005062615.1

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

Description

A similar copy number variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 30924982). For these reasons, this variant has been classified as Pathogenic. A gross deletion of the genomic region encompassing the full coding sequence of the MYBPC3 gene has been identified. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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

Last Updated: Sep 29, 2024