NM_000258.2(MYL3):c.447G>A (p.Met149Ile) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Mar 6, 2014)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000157372.1

Allele description [Variation Report for NM_000258.2(MYL3):c.447G>A (p.Met149Ile)]

NM_000258.2(MYL3):c.447G>A (p.Met149Ile)

Gene:
MYL3:myosin light chain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000258.2(MYL3):c.447G>A (p.Met149Ile)
HGVS:
  • NC_000003.12:g.46859509C>T
  • NG_007555.2:g.27661G>A
  • NM_000258.2:c.447G>A
  • NP_000249.1:p.Met149Ile
  • LRG_395t1:c.447G>A
  • LRG_395:g.27661G>A
  • LRG_395p1:p.Met149Ile
  • NC_000003.11:g.46900999C>T
Protein change:
M149I
Links:
dbSNP: rs730880162
NCBI 1000 Genomes Browser:
rs730880162
Molecular consequence:
  • NM_000258.2:c.447G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000207110Blueprint Geneticsno assertion criteria providedLikely pathogenic
(Mar 6, 2014)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000207110.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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