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NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000380107.3
Variation ID:
380107
Description:
single nucleotide variant
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NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=)

Allele ID
365671
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q13
Genomic location
2: 108783811 (GRCh38) GRCh38 UCSC
2: 109400267 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.109400267C>T
NC_000002.12:g.108783811C>T
NM_006267.5:c.9585C>T MANE Select NP_006258.3:p.Gly3195= synonymous
NG_012210.1:g.69331C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:108783810:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.05092 (T)

Allele frequency
1000 Genomes Project 0.05092
The Genome Aggregation Database (gnomAD), exomes 0.01273
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05090
Trans-Omics for Precision Medicine (TOPMed) 0.05007
Exome Aggregation Consortium (ExAC) 0.01502
The Genome Aggregation Database (gnomAD) 0.04411
Links
ClinGen: CA1824048
dbSNP: rs10185197
VarSome
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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 Jan 28, 2016 RCV000444408.1
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV000553195.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RANBP2 - - GRCh38
GRCh37
639 683

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517831.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Encephalopathy, acute, infection-induced, 3, suceptibility to
Allele origin: germline
Invitae
Accession: SCV000646865.3
Submitted: (Jan 07, 2021)
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 rs10185197...

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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 Jun 14, 2021