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NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Feb 5, 2020
Accession:
VCV000636966.10
Variation ID:
636966
Description:
single nucleotide variant
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NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)

Allele ID
624552
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2092500 (GRCh38) GRCh38 UCSC
16: 2142501 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2092500C>T
NC_000016.9:g.2142501C>T
NG_008617.1:g.50721G>A
... more HGVS
Protein change
R3750Q, R3749Q
Other names
-
Canonical SPDI
NC_000016.10:2092499:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1327414405
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 1, 2019 RCV000788943.3
Uncertain significance 1 criteria provided, single submitter Feb 5, 2020 RCV001095597.1
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2019 RCV001254256.1
Uncertain significance 1 no assertion criteria provided - RCV001292160.1

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 2099
LOC105371049 - - - GRCh38 - 230

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 21, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV000928243.1
Submitted: (May 08, 2019)
Comment:
Patient analyzed with Polycystic Kidney Disease Panel
Evidence details
Uncertain significance
(Feb 05, 2020)
criteria provided, single submitter
Method: research
Polycystic kidney disease, adult type
(Autosomal dominant inheritance)
Allele origin: unknown
Cavalleri Lab, Royal College of Surgeons in Ireland
Accession: SCV001251232.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
PM5, PP3, PP4, PP5
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: SCV001430296.1
Submitted: (Aug 18, 2020)
Evidence details
Pathogenic
(Dec 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001248131.6
Submitted: (Jul 04, 2021)
Evidence details
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: SCV001480761.1
Submitted: (Feb 03, 2021)
Evidence details
Comment:
The PKD1 p.Arg3750Gln variant was identified in 5 of 1474 proband chromosomes (frequency: 0.003) from French individuals or families with ADPKD (Audrezet 2012, Bataille 2011). … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1327414405...

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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