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NM_025132.4(WDR19):c.3716+1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Nov 16, 2020)
Last evaluated:
Jun 1, 2017
Accession:
VCV000446639.2
Variation ID:
446639
Description:
single nucleotide variant
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NM_025132.4(WDR19):c.3716+1G>A

Allele ID
440094
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p14
Genomic location
4: 39274959 (GRCh38) GRCh38 UCSC
4: 39276579 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.39276579G>A
NC_000004.12:g.39274959G>A
NM_025132.4:c.3716+1G>A MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:39274958:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA356651027
dbSNP: rs1191056931
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided Jun 1, 2017 RCV000515837.2
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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
446 472

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 01, 2017)
no assertion criteria provided
Method: research
Asphyxiating thoracic dystrophy
Allele origin: paternal
Dan Cohn Lab,University Of California Los Angeles
Accession: SCV000612051.1
Submitted: (Sep 01, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
asphyxiating thoracic dystrophy
Allele origin: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479404.1
Submitted: (Nov 16, 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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Title Author Journal Year Link
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Zhang W Human mutation 2018 PMID: 29068549

Text-mined citations for rs1191056931...

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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 Apr 06, 2021