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NM_000321.2(RB1):c.1216-29A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000235730.3
Variation ID:
235730
Description:
single nucleotide variant
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NM_000321.2(RB1):c.1216-29A>G

Allele ID
237410
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48376889 (GRCh38) GRCh38 UCSC
13: 48951025 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.48951025A>G
NC_000013.11:g.48376889A>G
LRG_517t1:c.1216-29A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:48376888:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.02536 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02829
1000 Genomes Project 0.02536
The Genome Aggregation Database (gnomAD) 0.02246
Trans-Omics for Precision Medicine (TOPMed) 0.02635
Exome Aggregation Consortium (ExAC) 0.00804
The Genome Aggregation Database (gnomAD), exomes 0.00626
Links
ClinGen: CA027882
dbSNP: rs3092886
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 19, 2015 RCV000223982.1
Benign 1 criteria provided, single submitter - RCV000250362.1
Benign 1 criteria provided, single submitter Nov 7, 2019 RCV001287305.1
Benign 1 criteria provided, single submitter Nov 25, 2020 RCV001512539.1
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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
(Aug 19, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281528.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303580.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Nov 07, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473980.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Invitae
Accession: SCV001719976.1
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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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 rs3092886...

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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 Jun 23, 2021