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NC_000012.11:g.(?_111348861)_(111348999_?)del AND Hypertrophic cardiomyopathy 10

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2021
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:
RCV001343350.7

Allele description

NC_000012.11:g.(?_111348861)_(111348999_?)del

Gene:
MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Chr12: 111348861 - 111348999 (on Assembly GRCh37)
Preferred name:
NC_000012.11:g.(?_111348861)_(111348999_?)del
HGVS:
NC_000012.11:g.(?_111348861)_(111348999_?)del

Condition(s)

Name:
Hypertrophic cardiomyopathy 10
Synonyms:
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2; Familial hypertrophic cardiomyopathy 10; MYL2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0012112; MedGen: C1834460; OMIM: 608758

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001537320Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 12, 2021) 		germlineclinical testing

PubMed (4)
[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: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project..

Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. Erratum in: Circulation. 2004 Jun 29;109(25):3258.

PubMed [citation]
PMID:
12707239

Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice.

Kerrick WG, Kazmierczak K, Xu Y, Wang Y, Szczesna-Cordary D.

FASEB J. 2009 Mar;23(3):855-65. doi: 10.1096/fj.08-118182. Epub 2008 Nov 5.

PubMed [citation]
PMID:
18987303
PMCID:
PMC2653985
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001537320.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the MYL2 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with MYL2-related conditions. This variant disrupts the p.Asp166Val amino acid residue in MYL2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12707239, 18987303, 23727233). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: Nov 11, 2023