ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Benign
- Review status:
- criteria provided, single submitter
- Submissions:
- 1 (Most recent: Jan 29, 2020)
- Last evaluated:
- Dec 31, 2019
- Accession:
- VCV000410918.3
- Variation ID:
- 410918
- Description:
- single nucleotide variant
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NM_000321.2(RB1):c.1073G>A (p.Arg358Gln)
- Allele ID
- 399454
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 13q14.2
- Genomic location
- 13: 48368550 (GRCh38) GRCh38 UCSC
- 13: 48942686 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNC_000013.10:g.48942686G>A NC_000013.11:g.48368550G>A NM_000321.2:c.1073G>A NP_000312.2:p.Arg358Gln missense LRG_517t1:c.1073G>A LRG_517p1:p.Arg358Gln LRG_517:g.69804G>A NG_009009.1:g.69804G>A - Protein change
- R358Q
- Other names
- -
- Canonical SPDI
- NC_000013.11:48368549:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- The Genome Aggregation Database (gnomAD), exomes 0.00001
- Exome Aggregation Consortium (ExAC) 0.00002
- The Genome Aggregation Database (gnomAD) 0.00003
- Links
- ClinGen: CA027547
- dbSNP: rs767011440
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Aggregate interpretations per condition
Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|---|
Benign | 1 | criteria provided, single submitter | Dec 31, 2019 | RCV000469444.4 |
Help
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
HelpInterpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | Supporting information
(See all) |
---|---|---|---|---|
Benign
(Dec 31, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Retinoblastoma
Allele origin:
germline
|
Invitae
Accession: SCV000551799.4
Submitted: (Jan 29, 2020) |
Functional evidence
HelpThere 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
HelpThere 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 rs767011440...
HelpThese 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