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NM_000321.2(RB1):c.2107-2A>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2019
Accession:
VCV000013077.3
Variation ID:
13077
Description:
single nucleotide variant
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NM_000321.2(RB1):c.2107-2A>G

Allele ID
28116
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48463729 (GRCh38) GRCh38 UCSC
13: 49037865 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.49037865A>G
NC_000013.11:g.48463729A>G
NM_000321.2:c.2107-2A>G splice acceptor
... more HGVS
Protein change
-
Other names
IVS20, A-G, -2
Canonical SPDI
NC_000013.11:48463728:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 614041.0009
dbSNP: rs1593538130
Varsome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 19, 2019 RCV001229630.2
Pathogenic 1 no assertion criteria provided Jan 29, 2018 RCV000013952.4
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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 pathogenic
(Oct 19, 2019)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Invitae
Accession: SCV001402083.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 20 of the RB1 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Jan 29, 2018)
no assertion criteria provided
Method: literature only
BLADDER CANCER, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034199.2
Submitted: (Mar 14, 2013)
Evidence details
Publications
PubMed (1)

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
Genotype-phenotype correlations in hereditary familial retinoblastoma. Taylor M Human mutation 2007 PMID: 17096365
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Nichols KE Human mutation 2005 PMID: 15884040
Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells. Horowitz JM Proceedings of the National Academy of Sciences of the United States of America 1990 PMID: 2181449

Text-mined citations for rs1593538130...

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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 May 10, 2021