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NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 18, 2022
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:
RCV002424486.2

Allele description [Variation Report for NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)]

NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)

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.2176C>T (p.Arg726Ter)
HGVS:
  • NC_000010.11:g.110812573C>T
  • NG_021177.1:g.173177C>T
  • NM_001134363.3:c.2176C>TMANE SELECT
  • NP_001127835.2:p.Arg726Ter
  • LRG_382t1:c.2176C>T
  • LRG_382:g.173177C>T
  • NC_000010.10:g.112572331C>T
  • NM_001134363.1:c.2176C>T
  • NM_001134363.2:c.2176C>T
Protein change:
R726*
Links:
dbSNP: rs1393804220
NCBI 1000 Genomes Browser:
rs1393804220
Molecular consequence:
  • NM_001134363.3:c.2176C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002726695Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 18, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.

Augusto JB, Eiros R, Nakou E, Moura-Ferreira S, Treibel TA, Captur G, Akhtar MM, Protonotarios A, Gossios TD, Savvatis K, Syrris P, Mohiddin S, Moon JC, Elliott PM, Lopes LR.

Eur Heart J Cardiovasc Imaging. 2020 Mar 1;21(3):326-336. doi: 10.1093/ehjci/jez188.

PubMed [citation]
PMID:
31317183

Details of each submission

From Ambry Genetics, SCV002726695.2

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

Description

The p.R726* variant (also known as c.2176C>T), located in coding exon 9 of the RBM20 gene, results from a C to T substitution at nucleotide position 2176. This changes the amino acid from an arginine to a stop codon within coding exon 9. This variant has been detected in a dilated cardiomyopathy cohort; however, details were limited (Augusto JB et al. Eur Heart J Cardiovasc Imaging, 2020 03;21:326-336). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of RBM20 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024