NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 3, 2020
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:: RCV000183827.4

Allele description [Variation Report for NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)]

NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)

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.1603G>A (p.Val535Ile)

Other names:

p.V535I:GTC>ATC

HGVS:

NC_000010.11:g.110797583G>A
NG_021177.1:g.158187G>A
NM_001134363.3:c.1603G>AMANE SELECT
NP_001127835.2:p.Val535Ile
LRG_382t1:c.1603G>A
LRG_382:g.158187G>A
NC_000010.10:g.112557341G>A
NM_001134363.1:c.1603G>A
NM_001134363.2:c.1603G>A

Protein change:

V535I

Links:

dbSNP: rs183007628

NCBI 1000 Genomes Browser:

rs183007628

Molecular consequence:

NM_001134363.3:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236309	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 3, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236309

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 3, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000236309.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported in one individual with DCM; however, this individual also harbored a variant in the LDB3 gene, and there were not a sufficient number of affected family members to assess segregation with disease (Li et al., 2010); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 202044; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 22466703, 20590677, 30547036, 29304022)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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