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NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000469482.7
Variation ID:
469482
Description:
single nucleotide variant
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NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser)

Allele ID
448727
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q13
Genomic location
2: 108767711 (GRCh38) GRCh38 UCSC
2: 109384167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.109384167C>G
NC_000002.12:g.108767711C>G
NG_012210.1:g.53231C>G
NM_006267.5:c.7172C>G MANE Select NP_006258.3:p.Thr2391Ser missense
Protein change
T2391S
Other names
-
Canonical SPDI
NC_000002.12:108767710:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00117
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA1823545
dbSNP: rs2433786
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 Dec 3, 2020 RCV000529003.5
Likely benign 3 no assertion criteria provided - RCV001573674.3
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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
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Encephalopathy, acute, infection-induced, 3, suceptibility to
Allele origin: germline
Invitae
Accession: SCV000646837.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001799901.1
Submitted: (Aug 19, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932367.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975424.1
Submitted: (Sep 21, 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 rs2433786...

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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 Oct 07, 2021