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NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 18, 2020)
Last evaluated:
Jan 1, 2019
Accession:
VCV000503677.4
Variation ID:
503677
Description:
3bp microsatellite
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NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)

Allele ID
495789
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
16p13.3
Genomic location
16: 2108768-2108770 (GRCh38) GRCh38 UCSC
16: 2158769-2158771 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2108769AAG[1]
NC_000016.9:g.2158770AAG[1]
NG_008617.1:g.32126TTC[1]
... more HGVS
Protein change
F2133del
Other names
-
Canonical SPDI
NC_000016.10:2108767:GAAGAAG:GAAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658798514
dbSNP: rs1555454460
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 22, 2018 RCV000599582.2
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2019 RCV001254255.1

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
Likely pathogenic
(Nov 06, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000709892.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.6397_6399delTTC variant in the PKD1 gene has been reported previously in an individual with polycystic kidney disease (Neumann et al., 2012). The c.6397_6399delTTC variant … (more)
Likely pathogenic
(May 22, 2018)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV000927705.1
Submitted: (May 08, 2019)
Comment:
Patient analyzed with Polycystic Kidney Disease Panel
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: SCV001430295.1
Submitted: (Aug 18, 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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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 rs1555454460...

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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