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NM_000258.3(MYL3):c.281G>A (p.Arg94His) AND Hypertrophic cardiomyopathy 8

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000491596.1

Allele description [Variation Report for NM_000258.3(MYL3):c.281G>A (p.Arg94His)]

NM_000258.3(MYL3):c.281G>A (p.Arg94His)

Gene:
MYL3:myosin light chain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
Other names:
p.R94H:CGT>CAT
HGVS:
  • NC_000003.12:g.46860702C>T
  • NG_007555.2:g.26468G>A
  • NM_000258.3:c.281G>AMANE SELECT
  • NP_000249.1:p.Arg94His
  • NP_000249.1:p.Arg94His
  • LRG_395t1:c.281G>A
  • LRG_395:g.26468G>A
  • LRG_395p1:p.Arg94His
  • NC_000003.11:g.46902192C>T
  • NM_000258.2:c.281G>A
  • c.281G>A
  • p.(Arg94His)
Protein change:
R94H
Links:
Leiden Muscular Dystrophy (MYL3): MYL3_00005; dbSNP: rs199474703
NCBI 1000 Genomes Browser:
rs199474703
Molecular consequence:
  • NM_000258.3:c.281G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:
Hypertrophic cardiomyopathy 8
Synonyms:
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1; Familial hypertrophic cardiomyopathy 8; MYL3-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0012111; MedGen: C1837471; OMIM: 608751

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579494Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
no assertion criteria provided
Pathogenic
(Aug 1, 2015) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided2yesresearch

Citations

PubMed

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

Nomura A, Tada H, Teramoto R, Konno T, Hodatsu A, Won HH, Kathiresan S, Ino H, Fujino N, Yamagishi M, Hayashi K.

J Cardiol. 2016 Feb;67(2):133-9. doi: 10.1016/j.jjcc.2015.09.003. Epub 2015 Oct 9.

PubMed [citation]
PMID:
26443374

Details of each submission

From Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, SCV000579494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (1)
2not provided1not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024