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NM_000321.2(RB1):c.1472T>C (p.Leu491Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Apr 6, 2016
Accession:
VCV000126839.1
Variation ID:
126839
Description:
single nucleotide variant
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NM_000321.2(RB1):c.1472T>C (p.Leu491Pro)

Allele ID
132349
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48380215 (GRCh38) GRCh38 UCSC
13: 48954351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.48380215T>C
NC_000013.10:g.48954351T>C
NM_000321.2:c.1472T>C NP_000312.2:p.Leu491Pro missense
... more HGVS
Protein change
L491P
Other names
L11910:g.77051T>C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA026379
dbSNP: rs587778848
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 6, 2016 RCV000273920.1
Pathogenic 1 no assertion criteria provided Sep 16, 2013 RCV000114732.1
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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
811 888

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 06, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000341209.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Sep 16, 2013)
no assertion criteria provided
Method: research
Retinoblastoma
Allele origin: germline
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine
Accession: SCV000087374.1
Submitted: (Apr 11, 2014)
Evidence details
Comment:
Damaging according to PolyPhen

Citations for this variant

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

Record last updated Oct 27, 2019