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NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 2015
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:
RCV000156848.6

Allele description [Variation Report for NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)]

NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)

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.1958C>T (p.Thr653Ile)
Other names:
p.T653I:ACC>ATC
HGVS:
  • NC_000010.11:g.110812355C>T
  • NG_021177.1:g.172959C>T
  • NM_001134363.3:c.1958C>TMANE SELECT
  • NP_001127835.2:p.Thr653Ile
  • LRG_382t1:c.1958C>T
  • LRG_382:g.172959C>T
  • NC_000010.10:g.112572113C>T
  • NM_001134363.1:c.1958C>T
  • NM_001134363.2:c.1958C>T
Protein change:
T653I
Links:
dbSNP: rs727505310
NCBI 1000 Genomes Browser:
rs727505310
Molecular consequence:
  • NM_001134363.3:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206569Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Nov 19, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided32not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206569.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The p.Thr653Ile variant in RBM20 has been identified by our laboratory in 1 Cauc asian individual with HCM, and has also been identified in 3/6614 European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ). Computational prediction tools and conservation analysis suggest that the p.T hr653Ile variant may impact the protein, though this information is not predicti ve enough to determine pathogenicity. In summary, the clinical significance of t he p.Thr653Ile variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided2not provided

Last Updated: Sep 29, 2024