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NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Feb 3, 2021)
Last evaluated:
Mar 3, 2020
Accession:
VCV000618804.4
Variation ID:
618804
Description:
single nucleotide variant
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NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)

Allele ID
610008
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2113267 (GRCh38) GRCh38 UCSC
16: 2163268 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2113267C>T
NC_000016.9:g.2163268C>T
NG_008617.1:g.27632G>A
... more HGVS
Protein change
G960D
Other names
-
Canonical SPDI
NC_000016.10:2113266:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1567208088
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 3, 2020 RCV000757636.2
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2019 RCV001254294.1
Uncertain significance 1 no assertion criteria provided - RCV001292068.1

Clinical features observed in individuals with this variant

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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 17, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885936.1
Submitted: (Oct 10, 2018)
Evidence details
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: SCV001430196.1
Submitted: (Aug 18, 2020)
Evidence details
Uncertain significance
(Mar 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476599.1
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (1)
Uncertain significance
(-)
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: SCV001480783.1
Submitted: (Feb 03, 2021)
Evidence details
Comment:
The PKD1 p.Gly960Asp variant was identified in 1 of 460 proband chromosomes (frequency: 0.002) from individuals or families with ADPKD (Rossetti 2012). The variant was … (more)

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
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. Rossetti S Journal of the American Society of Nephrology : JASN 2012 PMID: 22383692

Text-mined citations for rs1567208088...

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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 Oct 08, 2021