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NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) AND Hypertrophic cardiomyopathy 8

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004546418.1

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:
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
SCV005042693Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV005042693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The missense variant c.460C>Tp.Arg154Cys in the MYL3 gene has been reported previously in heterozygous state in individuals affected with hypertrophic cardiomyopathy. Functional studies of this variant indicates a reduction of transactivation activity compared to normal protein Bonaventura et al., 2019; Walsh et al., 2017. This variant is reported with the allele frequency 0.001% in the gnomAD and novel in the 1000 genome database. It is submitted to ClinVar as Uncertain significance Multiple Submissions. The amino acid Arginine at position 154 is changed to a Cysteine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Arg154Cys in MYL3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. For these reasons, this variant has been classified as Uncertain significance.

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

Last Updated: Sep 29, 2024