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NM_016373.4(WWOX):c.835C>T (p.Arg279Cys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000235342.5
Variation ID:
235342
Description:
single nucleotide variant
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NM_016373.4(WWOX):c.835C>T (p.Arg279Cys)

Allele ID
237029
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q23.1
Genomic location
16: 78432531 (GRCh38) GRCh38 UCSC
16: 78466428 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.78432531C>T
NC_000016.9:g.78466428C>T
NG_011698.1:g.337878C>T
... more HGVS
Protein change
R279C, R166C
Other names
-
Canonical SPDI
NC_000016.10:78432530:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00599 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00116
The Genome Aggregation Database (gnomAD) 0.00444
1000 Genomes Project 0.00599
Exome Aggregation Consortium (ExAC) 0.00129
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00386
Trans-Omics for Precision Medicine (TOPMed) 0.00432
Trans-Omics for Precision Medicine (TOPMed) 0.00510
The Genome Aggregation Database (gnomAD) 0.00395
Links
ClinGen: CA8183508
dbSNP: rs77314072
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 7, 2018 RCV000224551.4
Benign 1 criteria provided, single submitter Dec 22, 2017 RCV000430448.2
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV001084200.2
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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
560 765

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Oct 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000280840.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Dec 22, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000524605.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 1
Spinocerebellar ataxia, autosomal recessive 12
Allele origin: germline
Invitae
Accession: SCV000561078.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844907.1
Submitted: (Aug 31, 2018)
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 rs77314072...

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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 27, 2021