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NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000615660.4

Allele description [Variation Report for NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)]

NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)

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.136C>T (p.Pro46Ser)
HGVS:
  • NC_000010.11:g.110644590C>T
  • NG_021177.1:g.5194C>T
  • NM_001134363.3:c.136C>TMANE SELECT
  • NP_001127835.2:p.Pro46Ser
  • LRG_382t1:c.136C>T
  • LRG_382:g.5194C>T
  • NC_000010.10:g.112404348C>T
  • NM_001134363.1:c.136C>T
Protein change:
P46S
Links:
dbSNP: rs1554886574
NCBI 1000 Genomes Browser:
rs1554886574
Molecular consequence:
  • NM_001134363.3:c.136C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000712470Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 1, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000712470.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Pro46Ser variant in RBM20 has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to asses s the frequency of this variant. Computational prediction tools and conservation analysis are limited for this variant. In summary, the clinical significance of the p.Pro46Ser variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Feb 28, 2024