Patient record

VP-10765

45-54 · Female · Family history of breast cancer

LowEvidence weakened

Accumulated evidence now favours a more benign interpretation than the one reported.

2023 · On file

Uncertain significance

Reported 24 Apr 2023

Science evolves

Today · ClinVar

Benign

ClinVar last evaluated 18 Aug 2025 · Reviewed by expert panel

Patient summary

Record: VP-10765
Age band: 45-54
Sex: Female
Test date: 24 Apr 2023
Reporting laboratory: Genomics Core Laboratory
Ordering department: Breast Surgery
Clinical owner: Dr. N. Farouk
Last contact: 15 May 2023
Indication: Family history of breast cancer

Synthetic record. No identifiers in this workspace correspond to a real person.

Historical finding

ClinVar

BRCA2c.9538C>T (p.Leu3180Phe)

Panel: Hereditary cancer panel
Condition: Hereditary breast and ovarian cancer
ClinVar: VCV000052865
dbSNP: rs200598289
As reported: Uncertain significance
Reported on: 24 Apr 2023

Missense change in the C-terminal region. Reported as uncertain significance.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Benign
Consensus status: Reviewed by expert panel
Evidence confidence: Strong3 of 4 review criteria met
Last evaluated: 18 Aug 2025
Submissions: 13
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr13:32396934 (GRCh38)

Evidence summary

Decision support

Accumulated evidence now favours a more benign reading of BRCA2 c.9538C>T than the uncertain significance interpretation issued in 2023; the current consensus is benign. Where the original result drove additional testing or surveillance, that basis may have weakened. 2 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.

How VariantPulse reached this resultEight steps, each one inspectable

1Historical record retrievedBRCA2 c.9538C>T reported as Uncertain significance on 2023-04-24.
2Variant normalisedResolved to ClinVar VCV000052865 (rs200598289) and keyed as BRCA2:c.9538C>T.
3Current evidence retrievedRead live from ClinVar: Benign, 13 submissions, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Benign. Evidence moved toward a benign interpretation.
5Regional sources comparedNo regional evidence is held for this variant.
6Impacted records identified12,482 findings checked; 2 carry this variant.
7Evidence brief generatedComposed from the structured fields of the cited records above.
8Human review requestedVariantPulse does not change any record. A clinician decides what happens next.

How the interpretation changed

BRCA2 c.9538C>T. The DNA is unchanged. The evidence around it is not.

2023Genetic test performedFirst record on file carrying BRCA2 c.9538C>T.
2023Reported as uncertain significanceMissense change in the C-terminal region. Reported as uncertain significance.
2025Submissions accumulated13 independent submissions now contribute to the classification.
2025Classification now benignLast evaluated 18 Aug 2025 · Reviewed by expert panel.
TodayVariantPulse identified the affected records2 historical records carry this variant and were flagged for clinical review.

Decision support only. Final interpretation remains with the qualified clinical team.