VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseThe interpretation moved across the clinically actionable boundary since this result was reported.
2023 · On file
Uncertain significance
Reported 14 Mar 2023
Today · ClinVar
Likely pathogenic
ClinVar last evaluated 18 Aug 2025 · Reviewed by expert panel
The changed variant and every historical record that carries it. Select a record to see its detail.
Changed variant
BRCA1
c.5056C>T
VUSLikely pathogenic
VP-10247
Not reviewed45-54 · Clinical Genetics
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.
BRCA1 c.5056C>T. The DNA is unchanged. The evidence around it is not.
A triage signal for the queue. Not a clinical risk score, and not a statement about any individual.
The same records as a list, for scanning and screen readers.
| Record | Age band | Test date | As reported | Current | Department | Clinical owner | Last contact | Review state | |
|---|---|---|---|---|---|---|---|---|---|
| VP-10247 | 45-54 | 14 Mar 2023 | VUS | Likely pathogenic | Clinical Genetics | Dr. L. Haddad | Not reviewed | ||
| VP-10284 | 35-44 | 9 May 2023 | VUS | Likely pathogenic | Breast Surgery | Dr. N. Farouk | Not reviewed | ||
| VP-10321 | 55-64 | 21 Aug 2023 | VUS | Likely pathogenic | Oncology | Dr. R. Okonjo | Not reviewed | ||
| VP-10358 | 25-34 | 2 Nov 2023 | VUS | Likely pathogenic | Clinical Genetics | Dr. L. Haddad | Not reviewed |