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NM_000321.3(RB1):c.1961-12T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000237666.5
Variation ID:
237666
Description:
single nucleotide variant
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NM_000321.3(RB1):c.1961-12T>C

Allele ID
241757
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48459676 (GRCh38) GRCh38 UCSC
13: 49033812 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.48459676T>C
NC_000013.10:g.49033812T>C
NM_000321.3:c.1961-12T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:48459675:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00161
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00092
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00115
The Genome Aggregation Database (gnomAD), exomes 0.00126
Links
ClinGen: CA033234
dbSNP: rs201697122
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 2, 2020 RCV000234127.8
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Oct 26, 2017 RCV000352938.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1518 1611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000540157.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Likely benign
(Oct 26, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730341.1
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)
Benign
(Apr 20, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000341205.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000384552.3
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
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Invitae
Accession: SCV000284617.7
Submitted: (Jan 07, 2021)
Evidence details

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RB1 - - - -

Text-mined citations for rs201697122...

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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