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NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2014
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:
RCV000148718.3

Allele description [Variation Report for NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)]

NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)

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.460C>T (p.Arg154Cys)
HGVS:
  • NC_000003.12:g.46859496G>A
  • NG_007555.2:g.27674C>T
  • NM_000258.3:c.460C>TMANE SELECT
  • NP_000249.1:p.Arg154Cys
  • NP_000249.1:p.Arg154Cys
  • LRG_395t1:c.460C>T
  • LRG_395:g.27674C>T
  • LRG_395p1:p.Arg154Cys
  • NC_000003.11:g.46900986G>A
  • NM_000258.2:c.460C>T
  • c.460C>T
Protein change:
R154C
Links:
dbSNP: rs143852164
NCBI 1000 Genomes Browser:
rs143852164
Molecular consequence:
  • NM_000258.3:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190450CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Uncertain significance
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190450.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024