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NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(4);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000044018.11
Variation ID:
44018
Description:
single nucleotide variant
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NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)

Allele ID
53186
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q25.2
Genomic location
10: 110781057 (GRCh38) GRCh38 UCSC
10: 112540815 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_382t1:c.448G>A
LRG_382:g.141661G>A
NC_000010.10:g.112540815G>A
... more HGVS
Protein change
A150T
Other names
p.A150T:GCT>ACT
Canonical SPDI
NC_000010.11:110781056:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00123
Exome Aggregation Consortium (ExAC) 0.00229
The Genome Aggregation Database (gnomAD) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00088
Trans-Omics for Precision Medicine (TOPMed) 0.00049
Links
ClinGen: CA133390
dbSNP: rs199868951
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jan 16, 2018 RCV000036993.5
Benign 1 criteria provided, single submitter Oct 19, 2016 RCV000618530.1
Likely benign 1 criteria provided, single submitter Jun 8, 2017 RCV000770272.1
Familial dilated cardiomyopathy and peripheral neuropathy
Benign 1 criteria provided, single submitter Jun 3, 2019 RCV000852627.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 2, 2020 RCV000469728.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RBM20 - - GRCh38
GRCh37
981 1007

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 16, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000236303.12
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jun 08, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901704.1
Submitted: (Apr 30, 2018)
Evidence details
Likely benign
(Dec 11, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060649.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala150Thr in exon 2 of RBM20: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including … (more)
Benign
(Jun 03, 2019)
criteria provided, single submitter
Method: clinical testing
Familial dilated cardiomyopathy and peripheral neuropathy
Allele origin: germline
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego
Accession: SCV000995331.1
Submitted: (Jun 12, 2019)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1DD
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000360334.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Oct 19, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736050.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1DD
Allele origin: germline
Invitae
Accession: SCV000562784.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 26, 2013)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280435.1
Submitted: (May 06, 2016)
Evidence details
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs199868951...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021