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NM_000321.2(RB1):c.1700C>T (p.Ser567Leu)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 21, 1989
Accession:
VCV000013072.1
Variation ID:
13072
Description:
single nucleotide variant
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NM_000321.2(RB1):c.1700C>T (p.Ser567Leu)

Allele ID
28111
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48452997 (GRCh38) GRCh38 UCSC
13: 49027133 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.49027133C>T
NC_000013.11:g.48452997C>T
NM_000321.2:c.1700C>T NP_000312.2:p.Ser567Leu missense
... more HGVS
Protein change
S567L
Other names
-
Canonical SPDI
NC_000013.11:48452996:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA026396
UniProtKB: P06400#VAR_005579
OMIM: 614041.0004
dbSNP: rs137853292
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 21, 1989 RCV000013947.2
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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
1114 1199

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 21, 1989)
no assertion criteria provided
Method: literature only
RETINOBLASTOMA
Allele origin: germline
OMIM
Accession: SCV000034194.1
Submitted: (Dec 30, 2010)
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
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. Yandell DW The New England journal of medicine 1989 PMID: 2594029

Text-mined citations for rs137853292...

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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 Jan 25, 2021