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
54d35e4092570c6fba46238a- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
39438716PubMed- Title
- Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.
- Journal
- European journal of human genetics : EJHG
- Year
- 2024
- DOI
- 10.1038/s41431-024-01704-w
- PMC
PMC11607322PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ATM
- Query variant
NM_000051.4:c.7271T>C- Normalized c.HGVS
- c.7271T>C
- Normalized p.HGVS
- p.(Val2424Ala)
- Representative genomic HGVS
- CM000673.1:g.108199929T>C
- Genomic HGVS aliases
- CM000673.1:g.108199929T>C; CM000673.2:g.108329202T>C; LRG_135:g.111371T>C; NC_000011.10:g.108329202T>C; NC_000011.8:g.107705139T>C; NC_000011.9:g.108199929T>C; 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-unconfirmed biallelic evidence
- Query-evidence confidence
-
Needs review
Llm Review Not Conclusive For Removal
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Homozygous for query variant
- PM3 evidence items
- 1
- Allelic configuration type
- Homozygous 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
- Candidate context retained: 4 text windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 4
- Table candidate windows
- 0
- Target c.HGVS validated
- No
- Target p.HGVS validated
- No
- Target validation
- Target variant matched with phase-unconfirmed biallelic 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.