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
3e4fb2496ed657a9c99905c9- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
31090900PubMed- Title
- Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
- Journal
- Annals of oncology : official journal of the European Society for Medical Oncology
- Year
- 2019
- DOI
- 10.1093/annonc/mdz132
- PMC
PMC6637375PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- BRCA2
- Query variant
NM_000059.4:c.7828G>A- Normalized c.HGVS
- c.7828G>A
- Normalized p.HGVS
- p.(Val2610Met)
- Representative genomic HGVS
- CM000675.1:g.32936682G>A
- Genomic HGVS aliases
- CM000675.1:g.32936682G>A; CM000675.2:g.32362545G>A; LRG_293:g.52066G>A; NC_000013.10:g.32936682G>A; NC_000013.11:g.32362545G>A; NC_000013.9:g.31834682G>A; 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-unconfirmed biallelic evidence
- Query-evidence confidence
-
High confidence
Exact query c.HGVS was found in retained evidence.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Potential PM3 evidence identified; genotype context not structured
- PM3 evidence items
- 0
- Allelic configuration type
- PM3 evidence context not structured
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: 6 text windows and 4 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 6
- Table candidate windows
- 4
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- No
- Target validation
- Target variant matched with phase-unconfirmed biallelic evidence
Source provenance
- Reviewed source
- Supplementary material
- Supplement used by audit
- Yes
- Supplement available
- Yes
- Reviewed document format
- NXML/JATS full text
- Evidence context scope
- Expanded audit context
- Evidence location
- Supp
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.