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NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000779303.4
Variation ID:
779303
Description:
single nucleotide variant
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NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His)

Allele ID
707648
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q13
Genomic location
2: 108763701 (GRCh38) GRCh38 UCSC
2: 109380157 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.109380157G>T
NC_000002.12:g.108763701G>T
NG_012210.1:g.49221G>T
NM_006267.5:c.3162G>T MANE Select NP_006258.3:p.Gln1054His missense
Protein change
Q1054H
Other names
-
Canonical SPDI
NC_000002.12:108763700:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD), exomes 0.00327
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00323
Exome Aggregation Consortium (ExAC) 0.00337
The Genome Aggregation Database (gnomAD) 0.00236
Trans-Omics for Precision Medicine (TOPMed) 0.00367
Links
dbSNP: rs141230513
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 31, 2019 RCV000960107.2
Likely benign 2 no assertion criteria provided - RCV001702865.2
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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 31, 2019)
criteria provided, single submitter
Method: clinical testing
Encephalopathy, acute, infection-induced, 3, suceptibility to
Allele origin: germline
Invitae
Accession: SCV001107055.2
Submitted: (Jan 29, 2020)
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: SCV001927947.1
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: SCV001969848.1
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 rs141230513...

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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