ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence
Primary source retrieved and hashed for the BRCA1/BRCA2 germline interpretation use-case pass.
Evidence
Source checking verifies the cited claim or transcription. It does not establish independent reproduction.
Evidence table
Inspect claims, sources and review details
Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.
One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
17 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.artifact_sha256 cd089e7c621818f457f54f93c37cc1b9d535e531212b1aaf431fcbdd733bbda1 Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.artifact_url https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12120176/fullTextXML Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.doi 10.1016/j.ajhg.2024.12.011 Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.licence CC-BY-4.0 Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.media_type application/xml Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.publication_status peer_reviewed Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.retrieved_at 2026-10-09T21:18:06Z Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.url https://doi.org/10.1016/j.ajhg.2024.12.011 Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.version American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| description Primary source retrieved and hashed for the BRCA1/BRCA2 germline interpretation use-case pass. Source metadata | ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence No field-specific location recorded Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
Release 2026-10-10-84341e0b121f · Record review: source checked
Technical metadata and extraction receipts
Stable ID: brca-20261009-source-ramadane2025
- areas
- dna-genomes
- contexts
- clinical_research
- url
- https://doi.org/10.1016/j.ajhg.2024.12.011
- artifact url
- https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12120176/fullTextXML
- version
- American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML
- retrieved at
- 2026-10-09T21:18:06Z
- artifact sha256
- cd089e7c621818f457f54f93c37cc1b9d535e531212b1aaf431fcbdd733bbda1
- doi
- 10.1016/j.ajhg.2024.12.011
- publication status
- peer_reviewed
- licence
- CC-BY-4.0
- media type
- application/xml