NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) AND Primary dilated cardiomyopathy

Clinical significance:Likely benign (Last evaluated: May 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000852629.3

Allele description [Variation Report for NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)]

NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)

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.1013T>C (p.Met338Thr)
HGVS:
  • NC_000010.11:g.110781622T>C
  • NG_021177.1:g.142226T>C
  • NM_001134363.3:c.1013T>CMANE SELECT
  • NP_001127835.2:p.Met338Thr
  • LRG_382t1:c.1013T>C
  • LRG_382:g.142226T>C
  • NC_000010.10:g.112541380T>C
  • NM_001134363.1:c.1013T>C
  • NM_001134363.2:c.1013T>C
Protein change:
M338T
Links:
dbSNP: rs876657970
NCBI 1000 Genomes Browser:
rs876657970
Molecular consequence:
  • NM_001134363.3:c.1013T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy; Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000995333Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diegocriteria provided, single submitter
Likely benign
(May 14, 2019)
germlineclinical testing

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

SCV001434753University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedUncertain significanceinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

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

Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.

Cowan JR, Kinnamon DD, Morales A, Salyer L, Nickerson DA, Hershberger RE.

Circ Genom Precis Med. 2018 Jul;11(7):e002038. doi: 10.1161/CIRCGEN.117.002038.

PubMed [citation]
PMID:
30012837
PMCID:
PMC6294440

Details of each submission

From Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego, SCV000995333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434753.1

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

Last Updated: Jul 29, 2021

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