VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseThe interpretation moved across the clinically actionable boundary since this result was reported.
Uncertain significance
As reported
Likely pathogenic
Multiple submitters, no conflicts
Synthetic record. No identifiers in this workspace correspond to a real person.
Missense change in the BRCT domain. Insufficient functional and segregation data at the time of reporting to classify beyond uncertain significance.
Read from ClinVar at the last evidence sync.
Since the 2023 report, the consensus for BRCA1 c.5522G>T has moved from uncertain significance to likely pathogenic. That reading rests on 3 submissions at moderate review confidence — multiple submitters, no conflicts. 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.
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. Regional observations are limited but fall in the same clinical band as the global consensus. No divergence to resolve.
BRCA1 c.5522G>T — the DNA is unchanged. The evidence around it is not.