Patient record

VP-10839

55-64 · Male · Treatment planning

LowEvidence weakened

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

2022 · On file

Uncertain significance

Reported 13 Sept 2022

Science evolves

Today · ClinVar

Likely benign

ClinVar last evaluated 3 Apr 2025 · Reviewed by expert panel

Patient summary

Record: VP-10839
Age band: 55-64
Sex: Male
Test date: 13 Sept 2022
Reporting laboratory: Partner Reference Laboratory
Ordering department: Oncology
Clinical owner: Dr. R. Okonjo
Last contact: 10 Jan 2023
Indication: Treatment planning

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

Historical finding

ClinVar

TP53c.784G>A (p.Gly262Ser)

Panel: Hereditary cancer panel
Condition: Li-Fraumeni syndrome
ClinVar: VCV000141228
dbSNP: rs200579969
As reported: Uncertain significance
Reported on: 13 Sept 2022

Reported as uncertain significance by expert-panel criteria at the time.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Likely benign
Consensus status: Reviewed by expert panel
Evidence confidence: Strong3 of 4 review criteria met
Last evaluated: 3 Apr 2025
Submissions: 13
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr17:7673836 (GRCh38)

Evidence summary

Decision support

Accumulated evidence now favours a more benign reading of TP53 c.784G>A than the uncertain significance interpretation issued in 2022; the current consensus is likely benign. Where the original result drove additional testing or surveillance, that basis may have weakened. One record on file carries this variant and has 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 retrievedTP53 c.784G>A reported as Uncertain significance on 2022-09-13.
2Variant normalisedResolved to ClinVar VCV000141228 (rs200579969) and keyed as TP53:c.784G>A.
3Current evidence retrievedRead live from ClinVar: Likely benign, 13 submissions, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Likely benign. Evidence moved toward a benign interpretation.
5Regional sources comparedNo regional evidence is held for this variant.
6Impacted records identified12,482 findings checked; 1 carries 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

TP53 c.784G>A. The DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying TP53 c.784G>A.
2022Reported as uncertain significanceReported as uncertain significance by expert-panel criteria at the time.
2025Submissions accumulated13 independent submissions now contribute to the classification.
2025Classification now likely benignLast evaluated 3 Apr 2025 · Reviewed by expert panel.
TodayVariantPulse identified the affected recordsOne historical record carries this variant and was flagged for clinical review.

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