Patient record

VP-10432

45-54 · Male · Family history of pancreatic cancer

HighClassification drift

The interpretation moved across the clinically actionable boundary since this result was reported.

2023 · On file

Uncertain significance

Reported 19 Jun 2023

Science evolves

Today · ClinVar

Pathogenic

ClinVar last evaluated 6 Jul 2026 · Reviewed by expert panel

Patient summary

Record: VP-10432
Age band: 45-54
Sex: Male
Test date: 4 Sept 2023
Reporting laboratory: Genomics Core Laboratory
Ordering department: Clinical Genetics
Clinical owner: Dr. M. Suleiman
Last contact: 1 Oct 2023
Indication: Family history of pancreatic cancer

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

Historical finding

ClinVar

BRCA2c.7847C>T (p.Ser2616Phe)

Panel: Hereditary cancer panel
Condition: Hereditary breast and ovarian cancer
ClinVar: VCV000630829
dbSNP: rs1174303167
As reported: Uncertain significance
Reported on: 19 Jun 2023

Missense change in the DNA-binding domain. Classified as uncertain significance; functional data not yet available.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Pathogenic
Consensus status: Reviewed by expert panel
Evidence confidence: Strong3 of 4 review criteria met
Last evaluated: 6 Jul 2026
Submissions: 7
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr13:32362564 (GRCh38)

Evidence summary

Decision support

Since the 2023 report, the consensus for BRCA2 c.7847C>T has moved from uncertain significance to pathogenic. That reading rests on 7 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. 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.7847C>T reported as Uncertain significance on 2023-06-19.
2Variant normalisedResolved to ClinVar VCV000630829 (rs1174303167) and keyed as BRCA2:c.7847C>T.
3Current evidence retrievedRead live from ClinVar: Pathogenic, 7 submissions, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Pathogenic. The interpretation crossed into the clinically actionable band, so records carrying it may need review.
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.7847C>T. The DNA is unchanged. The evidence around it is not.

2023Genetic test performedFirst record on file carrying BRCA2 c.7847C>T.
2023Reported as uncertain significanceMissense change in the DNA-binding domain. Classified as uncertain significance; functional data not yet available.
2024Further literature published7 indexed publications appeared after the original report.
2026Submissions accumulated7 independent submissions now contribute to the classification.
2026Classification now pathogenicLast evaluated 6 Jul 2026 · 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.