NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) AND Familial hypertrophic cardiomyopathy 10

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000015112.25

Allele description [Variation Report for NM_000432.3(MYL2):c.52T>C (p.Phe18Leu)]

NM_000432.3(MYL2):c.52T>C (p.Phe18Leu)

Gene:
MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu)
HGVS:
  • NC_000012.12:g.110919145A>G
  • NG_007554.1:g.6433T>C
  • NM_000432.3:c.52T>C
  • NP_000423.2:p.Phe18Leu
  • LRG_393t1:c.52T>C
  • LRG_393:g.6433T>C
  • LRG_393p1:p.Phe18Leu
  • NC_000012.11:g.111356949A>G
  • P10916:p.Phe18Leu
  • p.(Phe18Leu)
Protein change:
F18L; PHE18LEU
Links:
Leiden Muscular Dystrophy (MYL2): MYL2_00002; UniProtKB: P10916#VAR_004602; OMIM: 160781.0005; dbSNP: 104894370
NCBI 1000 Genomes Browser:
rs104894370
Molecular consequence:
  • NM_000432.3:c.52T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
probably has functional consequence

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 10 (CMH10)
Synonyms:
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2; MYL2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MedGen: C1834460; OMIM: 608758

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035369OMIMno assertion criteria providedPathogenic
(Mar 1, 1998)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000045754Leiden Muscular Dystrophy (MYL2)no assertion providednot providedgermlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.

Flavigny J, Richard P, Isnard R, Carrier L, Charron P, Bonne G, Forissier JF, Desnos M, Dubourg O, Komajda M, Schwartz K, Hainque B.

J Mol Med (Berl). 1998 Mar;76(3-4):208-14.

PubMed [citation]
PMID:
9535554

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
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000035369.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a family segregating hypertrophic cardiomyopathy-10 (608758), Flavigny et al. (1998) identified a 52T-C transition in exon 2 of the MYL2 gene, resulting in a phe18-to-leu (F18L) substitution. Affected individuals were classified morphologically as Maron type 1, 2, or 3.

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

From Leiden Muscular Dystrophy (MYL2), SCV000045754.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 5, 2017