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NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser) AND Primary dilated cardiomyopathy

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001535678.1

Allele description [Variation Report for NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)]

NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)

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.2382A>C (p.Arg794Ser)
HGVS:
  • NC_000010.11:g.110812779A>C
  • NG_021177.1:g.173383A>C
  • NM_001134363.3:c.2382A>CMANE SELECT
  • NP_001127835.2:p.Arg794Ser
  • LRG_382t1:c.2382A>C
  • LRG_382:g.173383A>C
  • NC_000010.10:g.112572537A>C
  • NM_001134363.1:c.2382A>C
  • NM_001134363.2:c.2382A>C
Protein change:
R794S
Links:
dbSNP: rs999008497
NCBI 1000 Genomes Browser:
rs999008497
Molecular consequence:
  • NM_001134363.3:c.2382A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749746GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749746.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 03-19-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024