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NM_000297.4(PKD2):c.2246_2247insGCCATACTGG (p.His750fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 5, 2019)
Last evaluated:
Nov 16, 2018
Accession:
VCV000811831.1
Variation ID:
811831
Description:
10bp insertion
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NM_000297.4(PKD2):c.2246_2247insGCCATACTGG (p.His750fs)

Allele ID
799385
Variant type
Insertion
Variant length
10 bp
Cytogenetic location
4q22.1
Genomic location
4: 88065765-88065766 (GRCh38) GRCh38 UCSC
4: 88986917-88986918 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.88986919_88986920insGCCATACTGG
NC_000004.12:g.88065767_88065768insGCCATACTGG
NG_008604.1:g.63100_63101insGCCATACTGG
... more HGVS
Protein change
H750fs
Other names
-
Canonical SPDI
NC_000004.12:88065765:GG:GGGCCATACTGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1578147458
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 16, 2018 RCV001002238.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKD2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
485 505

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 16, 2018)
criteria provided, single submitter
Method: clinical testing
Polycystic kidney disease 2
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001160113.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The PKD2 c.2245_2254dupGGCCATACTG; p.Asp752fs variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is absent from general … (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 rs1578147458...

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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