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NM_001134363.3(RBM20):c.2550G>A (p.Glu850=) AND Dilated cardiomyopathy 1DD

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV003991076.1

Allele description [Variation Report for NM_001134363.3(RBM20):c.2550G>A (p.Glu850=)]

NM_001134363.3(RBM20):c.2550G>A (p.Glu850=)

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.2550G>A (p.Glu850=)
HGVS:
  • NC_000010.11:g.110812947G>A
  • NG_021177.1:g.173551G>A
  • NM_001134363.3:c.2550G>AMANE SELECT
  • NP_001127835.1:p.Glu850=
  • NP_001127835.2:p.Glu850=
  • LRG_382t1:c.2550G>A
  • LRG_382:g.173551G>A
  • LRG_382p1:p.Glu850=
  • NC_000010.10:g.112572705G>A
  • NM_001134363.1:c.2550G>A
Molecular consequence:
  • NM_001134363.3:c.2550G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Dilated cardiomyopathy 1DD (CMD1DD)
Identifiers:
MONDO: MONDO:0013168; MedGen: C2750995; Orphanet: 154; OMIM: 613172

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004808395Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
no assertion criteria provided
Uncertain significance
(May 23, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV004808395.1

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

Last Updated: Apr 6, 2024