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NM_000553.6(WRN):c.720T>G (p.Asn240Lys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000135448.4
Variation ID:
135448
Description:
single nucleotide variant
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NM_000553.6(WRN):c.720T>G (p.Asn240Lys)

Allele ID
139187
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p12
Genomic location
8: 31068323 (GRCh38) GRCh38 UCSC
8: 30925839 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.31068323T>G
NC_000008.10:g.30925839T>G
NM_000553.6:c.720T>G MANE Select NP_000544.2:p.Asn240Lys missense
... more HGVS
Protein change
N240K
Other names
-
Canonical SPDI
NC_000008.11:31068322:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (G)

Allele frequency
1000 Genomes Project 0.00080
Exome Aggregation Consortium (ExAC) 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00080
The Genome Aggregation Database (gnomAD) 0.00108
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00139
The Genome Aggregation Database (gnomAD), exomes 0.00019
Links
ClinGen: CA162794
UniProtKB: Q14191#VAR_017456
dbSNP: rs148229804
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Apr 10, 2015 RCV000122305.2
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV000533817.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WRN - - GRCh38
GRCh37
1881 1944

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Werner syndrome
Allele origin: germline
Invitae
Accession: SCV000629741.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 10, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232079.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000086534.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=WRN - - - -

Text-mined citations for rs148229804...

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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