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
a8ef2bdf8580a4a33f7c2aeb- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
34425783PubMed- Title
- Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.
- Journal
- BMC gastroenterology
- Year
- 2021
- DOI
- 10.1186/s12876-021-01902-6
- PMC
PMC8381554PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- MSH6
- Query variant
NM_000179.3:c.3259_3261del- Normalized c.HGVS
- c.3259_3261del
- Normalized p.HGVS
- p.(Pro1087del)
- Representative genomic HGVS
- CM000664.1:g.48030645_48030647del
- Genomic HGVS aliases
- CM000664.1:g.48030645_48030647del; CM000664.2:g.47803506_47803508del; LRG_219:g.25360_25362del; NC_000002.10:g.47884149_47884151del; NC_000002.11:g.48030645_48030647del; NC_000002.12:g.47803506_47803508del; and 1 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
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- Phase-confirmed PM3 evidence
- Yes
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- PM3 evidence identified; partner variant not structured
- PM3 evidence items
- 1
- Allelic configuration type
- Confirmed in trans
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
- Candidate context retained: 2 text windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 2
- Table candidate windows
- 0
- Target c.HGVS validated
- No
- Target p.HGVS validated
- No
- 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
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.