Record detail
One row in GLEAM-DB is one paper (PubMed) × one query variant. This page shows structured labels and provenance for that record, not a final variant classification.
Record identity
- Record ID
6ce765b8ffaaadc58c633070- Release version
- v1.0
- PMID
23981578PubMed- Title
- Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.
- Journal
- Cancer letters
- Year
- 2014
- PMC
PMC3981830PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- PMS2
- Query variant
NM_000535.7:c.59G>C- Normalized c.HGVS
- c.59G>C
- Normalized p.HGVS
- p.(Arg20Pro)
- Representative genomic HGVS
- CM000669.1:g.6045627C>G
- Genomic HGVS aliases
- CM000669.1:g.6045627C>G; CM000669.2:g.6005996C>G; LRG_161:g.8111G>C; NC_000007.12:g.6012153C>G; NC_000007.13:g.6045627C>G; NC_000007.14:g.6005996C>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
- Other Patient-Level Evidence
- Query-evidence confidence
-
Needs review
No same-position c.HGVS token was found in the scanned evidence fields; manual review is required.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- No
- Other patient-level evidence
- Yes
- PM3 context
- Patient-level evidence found, not PM3
- PM3 evidence items
- 0
- Allelic configuration type
- Other patient-level evidence
No retained PM3 partner variant was recorded for this PMID × variant pair.
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
- No candidate context window was retained
- Context status
- Found in final retained audit context
- Text candidate windows
- 0
- Table candidate windows
- 0
- Target c.HGVS validated
- No
- Target p.HGVS validated
- No
- Target validation
- Not recorded
Source provenance
- Reviewed source
- Main article
- Supplement used by audit
- No
- Supplement available
- No
- Reviewed document format
- BioC full text
- Evidence context scope
- Primary audit context
- Evidence location
- Main article
Source links and copyright boundary
Use the PMID, PMC and DOI links above to inspect the source publication where access is permitted. GLEAM-DB redistributes structured metadata, evidence labels and provenance fields only; it does not redistribute copyrighted full text, supplementary tables, copied source tables, long evidence contexts, raw source documents, raw LLM outputs or internal processing logs.