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NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2020
Accession:
VCV000135419.5
Variation ID:
135419
Description:
single nucleotide variant
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NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)

Allele ID
139158
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p12
Genomic location
8: 31091835 (GRCh38) GRCh38 UCSC
8: 30949351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.30949351C>G
NC_000008.11:g.31091835C>G
NG_008870.1:g.63574C>G
... more HGVS
Protein change
S612C
Other names
-
Canonical SPDI
NC_000008.11:31091834:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00017
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00042
The Genome Aggregation Database (gnomAD) 0.00067
Links
ClinGen: CA162704
UniProtKB: Q14191#VAR_018943
dbSNP: rs11574250
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 16, 2020 RCV000552831.7
not provided 1 no assertion provided Sep 19, 2013 RCV000122275.1
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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
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Werner syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320243.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Oct 16, 2020)
criteria provided, single submitter
Method: clinical testing
Werner syndrome
Allele origin: germline
Invitae
Accession: SCV000629625.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces serine with cysteine at codon 612 of the WRN protein (p.Ser612Cys). The serine residue is highly conserved and there is a … (more)
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000086500.1
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327

Text-mined citations for rs11574250...

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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 08, 2021