Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Nov 8, 2020)
Last evaluated:
Mar 25, 2019
Accession:
VCV000434007.5
Variation ID:
434007
Description:
3bp deletion
Help

NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)

Allele ID
427445
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
16p13.3
Genomic location
16: 2090336-2090338 (GRCh38) GRCh38 UCSC
16: 2140337-2140339 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2090337_2090339del
NC_000016.9:g.2140338_2140340del
NG_005895.1:g.46032_46034del
... more HGVS
Protein change
E4131del, E4130del
Other names
-
Canonical SPDI
NC_000016.10:2090335:CTCC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645373028
dbSNP: rs1555444468
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 25, 2019 RCV000992558.1
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2019 RCV001254208.1
Likely pathogenic 1 no assertion criteria provided - RCV000500794.2

Clinical features observed in individuals with this variant

Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1761 2100

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 25, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144957.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: research
Autosomal dominant polycystic kidney disease
Allele origin: germline
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research
Accession: SCV001430277.1
Submitted: (Aug 18, 2020)
Evidence details
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Polycystic Kidney disease
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592863.3
Submitted: (Nov 08, 2020)
Evidence details
Comment:
The PKD1 p.Glu4131del variant was identified in the literature in 1 of 440 proband chromosomes (freq. 0.002) in a study determining the genotype-phenotype relationship of … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. Hwang YH Journal of the American Society of Nephrology : JASN 2016 PMID: 26453610

Text-mined citations for rs1555444468...

Help
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 Oct 08, 2021