Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 26, 2020
Accession:
VCV000030975.3
Variation ID:
30975
Description:
single nucleotide variant
Help

NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)

Allele ID
39932
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7702770 (GRCh38) GRCh38 UCSC
17: 7606088 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7606088C>T
NC_000017.11:g.7702770C>T
NM_001143992.2:c.1192C>T MANE Select NP_001137464.1:p.Arg398Trp missense
... more HGVS
Protein change
R398W
Other names
-
Canonical SPDI
NC_000017.11:7702769:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00022
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00022
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Links
dbSNP: rs281865548
ClinGen: CA342768
UniProtKB: Q9BUR4#VAR_065875
OMIM: 612661.0002
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 26, 2020 RCV001269522.2
Pathogenic 2 no assertion criteria provided May 10, 2012 RCV000023966.6
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WRAP53 - - GRCh38
GRCh37
109 171

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001536251.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 398 of the WRAP53 protein (p.Arg398Trp). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jan 29, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital
Accession: SCV001449566.1
Submitted: (Nov 26, 2020)
Evidence details
pathologic
(May 10, 2012)
no assertion criteria provided
Method: curation
Dyskeratosis Congenita
Allele origin: not provided
GeneReviews
Accession: SCV000058087.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Jan 01, 2011)
no assertion criteria provided
Method: literature only
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Allele origin: germline
OMIM
Accession: SCV000045257.4
Submitted: (May 26, 2011)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Dyskeratosis Congenita Savage SA - 2019 PMID: 20301779
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Zhong F Genes & development 2011 PMID: 21205863

Text-mined citations for rs281865548...

Help
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 Mar 28, 2021