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NM_000258.3(MYL3):c.167A>G (p.Glu56Gly) AND not provided

Germline classification:
not provided (1 submission)
Last evaluated:
Mar 18, 2012
Review status:
no classification 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:
RCV000024467.2

Allele description [Variation Report for NM_000258.3(MYL3):c.167A>G (p.Glu56Gly)]

NM_000258.3(MYL3):c.167A>G (p.Glu56Gly)

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.167A>G (p.Glu56Gly)
HGVS:
  • NC_000003.12:g.46860816T>C
  • NG_007555.2:g.26354A>G
  • NM_000258.3:c.167A>GMANE SELECT
  • NP_000249.1:p.Glu56Gly
  • NP_000249.1:p.Glu56Gly
  • LRG_395t1:c.167A>G
  • LRG_395:g.26354A>G
  • LRG_395p1:p.Glu56Gly
  • NC_000003.11:g.46902306T>C
  • NM_000258.2:c.167A>G
  • P08590:p.Glu56Gly
  • p.(Glu56Gly)
Protein change:
E56G
Links:
Leiden Muscular Dystrophy (MYL3): MYL3_00001; UniProtKB: P08590#VAR_019842; dbSNP: rs199474702
NCBI 1000 Genomes Browser:
rs199474702
Molecular consequence:
  • NM_000258.3:c.167A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045768Leiden Muscular Dystrophy (MYL3)
no classification provided
not providedgermlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedcuration

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

Details of each submission

From Leiden Muscular Dystrophy (MYL3), SCV000045768.1

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

Last Updated: Mar 26, 2023