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NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 31, 2020)
Last evaluated:
Nov 12, 2019
Accession:
VCV000977388.2
Variation ID:
977388
Description:
single nucleotide variant
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NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)

Allele ID
965484
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q21.23
Genomic location
4: 84808416 (GRCh38) GRCh38 UCSC
4: 85729569 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.85729569G>A
NC_000004.12:g.84808416G>A
NG_046917.1:g.162976C>T
NM_014991.6:c.2347C>T MANE Select NP_055806.2:p.Arg783Cys missense
Protein change
R783C
Other names
-
Canonical SPDI
NC_000004.12:84808415:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Nov 12, 2019 RCV001255021.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WDFY3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
85 126
WDFY3-AS1 - - - GRCh38 - 23

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 12, 2019)
no assertion criteria provided
Method: clinical testing
Intellectual disability
Autistic disorder of childhood onset
Focal seizures
Allele origin: germline
New York Genome Center
Accession: SCV001431111.2
Submitted: (Jul 31, 2020)
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.

Record last updated Sep 24, 2021