NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) AND Cardiomyopathy

Clinical significance:Likely benign (Last evaluated: Jun 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000770272.1

Allele description [Variation Report for NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)]

NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)

Gene:
RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q25.2
Genomic location:
Preferred name:
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
Other names:
p.A150T:GCT>ACT
HGVS:
  • NC_000010.11:g.110781057G>A
  • NG_021177.1:g.141661G>A
  • NM_001134363.3:c.448G>AMANE SELECT
  • NP_001127835.2:p.Ala150Thr
  • LRG_382t1:c.448G>A
  • LRG_382:g.141661G>A
  • NC_000010.10:g.112540815G>A
  • NM_001134363.1:c.448G>A
  • NM_001134363.2:c.448G>A
  • c.448G>A
Protein change:
A150T
Links:
dbSNP: rs199868951
NCBI 1000 Genomes Browser:
rs199868951
Molecular consequence:
  • NM_001134363.3:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000901704CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repositorycriteria provided, single submitter
Likely benign
(Jun 8, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000901704.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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