Record detail

Record identity

Record ID

5aefe19d792d9cadd5db22fe

Release version

webdb_threshold_completion_missing10_20260508

PMID

32457805 PubMed

Title

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Journal

Frontiers in genetics

Year

2020

DOI

10.3389/fgene.2020.00464

PMC

PMC7224062 PMC

Variant information

This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.

Gene

PKD1

Query variant

NM_001009944.3:c.11875G>C

Normalized c.HGVS

c.11875G>C

Normalized p.HGVS

p.(Ala3959Pro)

Representative genomic HGVS

CM000678.1:g.2141013C>G

Genomic HGVS aliases

CM000678.1:g.2141013C>G; CM000678.2:g.2091012C>G; LRG_487:g.46707C>G; NC_000016.10:g.2091012C>G; NC_000016.8:g.2081014C>G; NC_000016.9:g.2141013C>G; and 2 more

CoGenEx-PM3 evidence

Evidence status is assigned at the PMID × variant level and should not be interpreted as a final variant-level pathogenicity classification.

Evidence status

Phase-confirmed PM3 evidence

Query-evidence confidence

High confidence

Exact query c.HGVS was found in retained evidence.

Phase-confirmed PM3 evidence

Yes

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Confirmed in trans with p.P2674S; p.Pro2674Ser

PM3 evidence items

2

Allelic configuration type

Confirmed in trans

Retained partner variants

• p.P2674S
• p.Pro2674Ser

Partner variants are retained structured tokens from CoGenEx-PM3 evidence items. They are not transcript-normalized in this release.

Candidate context and target validation

Candidate context windows are places selected for audit because the query or its aliases may be relevant. They are not the same as a validated match to the target c.HGVS or p.HGVS expression.

Candidate context

Candidate context retained: 2 text windows and 1 table window

Context status

Found in final retained audit context

Text candidate windows

2

Table candidate windows

1

Target c.HGVS validated

Yes

Target p.HGVS validated

Yes

Target validation

Target variant matched with phase-confirmed PM3 evidence

Source provenance

Reviewed source

Main article

Supplement used by audit

No

Supplement available

No

Reviewed document format

NXML/JATS full text

Evidence context scope

Expanded audit context

Evidence location

Main article

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