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NM_016373.4(WWOX):c.613C>A (p.His205Asn)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 24, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000260743.8
Variation ID:
260743
Description:
single nucleotide variant
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NM_016373.4(WWOX):c.613C>A (p.His205Asn)

Allele ID
255883
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q23.1
Genomic location
16: 78424877 (GRCh38) GRCh38 UCSC
16: 78458774 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.78424877C>A
NC_000016.9:g.78458774C>A
NG_011698.1:g.330224C>A
... more HGVS
Protein change
H205N, H92N
Other names
-
Canonical SPDI
NC_000016.10:78424876:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00938 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00658
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00634
The Genome Aggregation Database (gnomAD) 0.00640
1000 Genomes Project 0.00938
Links
ClinGen: CA8183386
dbSNP: rs74860463
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 24, 2017 RCV000253263.7
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 25, 2019 RCV000513720.6
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV001086032.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WWOX - - GRCh38
GRCh37
559 764

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312709.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 24, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000597995.1
Submitted: (Jul 05, 2017)
Evidence details
Likely benign
(Aug 31, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610771.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Jun 25, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844904.2
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 1
Spinocerebellar ataxia, autosomal recessive 12
Allele origin: germline
Invitae
Accession: SCV000561077.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 15, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000522700.4
Submitted: (Sep 24, 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 rs74860463...

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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 Nov 20, 2021