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NM_025132.4(WDR19):c.1357-10T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 14, 2019)
Last evaluated:
Dec 27, 2018
Accession:
VCV000261857.2
Variation ID:
261857
Description:
single nucleotide variant
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NM_025132.4(WDR19):c.1357-10T>C

Allele ID
251478
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p14
Genomic location
4: 39217973 (GRCh38) GRCh38 UCSC
4: 39219593 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.39219593T>C
NC_000004.12:g.39217973T>C
NM_025132.4:c.1357-10T>C
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01997 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01691
The Genome Aggregation Database (gnomAD), exomes 0.00672
Exome Aggregation Consortium (ExAC) 0.00732
1000 Genomes Project 0.01997
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01613
Trans-Omics for Precision Medicine (TOPMed) 0.01946
Links
ClinGen: CA2891831
dbSNP: rs16995189
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV000249388.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000274480.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000329507.1
Benign 1 criteria provided, single submitter Dec 27, 2018 RCV000549539.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WDR19 - - GRCh38
GRCh37
169 191

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: SCV000314580.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cranioectodermal Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000449386.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Asphyxiating Thoracic Dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000449387.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000656612.2
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

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 Dec 17, 2019