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NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Mar 26, 2013)
Last evaluated:
May 10, 2012
Accession:
VCV000030975.1
Variation ID:
30975
Description:
single nucleotide variant
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NM_018081.2(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_001143990.1:c.1192C>T NP_001137462.1:p.Arg398Trp missense
... more HGVS
Protein change
R398W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

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

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided May 10, 2012 RCV000023966.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WRAP53 - - GRCh38
GRCh37
42 86

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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)

Citations for this variant

Title Author Journal Year Link
Dyskeratosis Congenita Savage SA - 2016 PMID: 20301779
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Zhong F Genes & development 2011 PMID: 21205863

Record last updated Oct 27, 2019