VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseEvidence explorer
Every source that contributes to an interpretation, shown separately. VariantPulse does not collapse them into a single verdict.
Hereditary breast and ovarian cancer · Hereditary cancer panel
Last evaluated 18 Aug 2025
Since the 2023 report, the consensus for BRCA1 c.5056C>T has moved from uncertain significance to likely pathogenic. That reading rests on 10 submissions at strong review confidence, reviewed by expert panel. That crosses the clinically actionable boundary, so management guidance issued on the original interpretation may no longer be the right guidance. 4 records on file carry this variant and have not yet been reassessed.
Composed from the structured fields of the records cited on this page. Requires clinical verification before it informs any decision.
Each source is shown as it reports itself. VariantPulse does not merge them into a single verdict.
| Source | Classification | Review level | Last updated | Strength | |
|---|---|---|---|---|---|
| ClinVar10 submissions on record. | Likely pathogenic | Reviewed by expert panel | 18 Aug 2025 | Strong3 of 4 review criteria met | VCV000531444 |
| Population frequencyHighest reported allele frequency carried on the source record. | Not reported | No frequency data | 18 Aug 2025 | Reference observation | |
| LiteraturePublications linked to this variant record. | 8 indexed publications | PubMed index | Latest 2024 | Supporting context | |
| Regional Evidence IndexModelled regional aggregation maintained inside this workspace | Likely pathogenic | 0 regional observations | 18 Feb 2026 | Cohort 3,042 | |
| This institutionThe interpretation issued to the patient at the time of testing. | Uncertain significance | Internal report | 14 Mar 2023 | On record |
Cited publications
Global · ClinVar
Likely pathogenicreviewed by expert panel · Last evaluated 18 Aug 2025
Regional · Regional Evidence Index
Likely pathogenic0 observations in 3,042 · updated 18 Feb 2026
Sources consistent
Both lanes fall in the same clinical band.
Global
Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.
Regional
Modelled regional aggregation maintained inside this workspace.
VariantPulse analysis
Both sources place this variant in the same band, so there is no divergence to resolve. Absent from gnomAD v4 entirely, including its ~3,000 Middle Eastern individuals. Regional data neither supports nor contradicts the expert-panel reclassification; the global reading stands.