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NM_006267.5(RANBP2):c.225C>G (p.Asn75Lys)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 29, 2020
Accession:
VCV000469439.4
Variation ID:
469439
Description:
single nucleotide variant
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NM_006267.5(RANBP2):c.225C>G (p.Asn75Lys)

Allele ID
448601
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q13
Genomic location
2: 108730858 (GRCh38) GRCh38 UCSC
2: 109347314 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.108730858C>G
NC_000002.11:g.109347314C>G
NM_006267.5:c.225C>G MANE Select NP_006258.3:p.Asn75Lys missense
NG_012210.1:g.16378C>G
Protein change
N75K
Other names
-
Canonical SPDI
NC_000002.12:108730857:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00235
1000 Genomes Project 0.00319
Trans-Omics for Precision Medicine (TOPMed) 0.00227
The Genome Aggregation Database (gnomAD) 0.00242
Links
ClinGen: CA1821970
dbSNP: rs144278795
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 Oct 29, 2020 RCV000527481.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
Encephalopathy, acute, infection-induced, 3, suceptibility to
Allele origin: germline
Invitae
Accession: SCV000646780.4
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 rs144278795...

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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