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NM_006267.5(RANBP2):c.238G>A (p.Val80Ile)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 22, 2020
Accession:
VCV000380588.4
Variation ID:
380588
Description:
single nucleotide variant
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NM_006267.5(RANBP2):c.238G>A (p.Val80Ile)

Allele ID
365579
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q13
Genomic location
2: 108730871 (GRCh38) GRCh38 UCSC
2: 109347327 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.109347327G>A
NC_000002.12:g.108730871G>A
NM_006267.5:c.238G>A MANE Select NP_006258.3:p.Val80Ile missense
NG_012210.1:g.16391G>A
Protein change
V80I
Other names
-
Canonical SPDI
NC_000002.12:108730870:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00074
Trans-Omics for Precision Medicine (TOPMed) 0.00042
The Genome Aggregation Database (gnomAD), exomes 0.00099
The Genome Aggregation Database (gnomAD) 0.00029
Exome Aggregation Consortium (ExAC) 0.00090
Links
ClinGen: CA1821973
dbSNP: rs140785381
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 1, 2016 RCV000433920.1
Benign 1 criteria provided, single submitter Nov 22, 2020 RCV000960742.3
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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
Likely benign
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518803.4
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
(Nov 22, 2020)
criteria provided, single submitter
Method: clinical testing
Encephalopathy, acute, infection-induced, 3, suceptibility to
Allele origin: germline
Invitae
Accession: SCV001107756.3
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 rs140785381...

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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