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NM_000321.2(RB1):c.1073G>A (p.Arg358Gln)

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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
consequence
NC_000013.10:g.48942686G>A
NC_000013.11:g.48368550G>A
NM_000321.2:c.1073G>A NP_000312.2:p.Arg358Gln missense
... more HGVS
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
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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
(See all)
Benign
(Dec 31, 2019)
 criteria provided, single submitter
(Invitae Variant Classification Sherloc (09022015))
Method: clinical testing
 Retinoblastoma
Allele origin: germline
Invitae
Accession: SCV000551799.4
Submitted: (Jan 29, 2020)
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 rs767011440...

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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

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