Patient record

VP-10534

35-44 · Female · Family history of breast cancer

No material change

Current evidence agrees with the interpretation issued for this record.

Patient summary

Record: VP-10534
Age band: 35-44
Sex: Female
Test date: 25 Apr 2022
Reporting laboratory: Genomics Core Laboratory
Ordering department: Breast Surgery
Clinical owner: Dr. N. Farouk
Last contact: 25 Apr 2024
Indication: Family history of breast cancer

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

Historical finding

ClinVar

PALB2c.682C>T (p.Gln228Ter)

Panel: Hereditary cancer panel
Condition: Hereditary breast cancer
ClinVar: VCV000484222
dbSNP: rs1327399690
As reported: Pathogenic
Reported on: 12 Mar 2022

Nonsense change predicted to result in loss of function. Reported as pathogenic with management guidance.

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: 5 Apr 2023
Submissions: 6
Molecular consequence: nonsense
Variant type: single nucleotide variant
Location: chr16:23635864 (GRCh38)

Evidence summary

Decision support

Current evidence for PALB2 c.682C>T agrees with the pathogenic interpretation issued in 2022. The classification was last evaluated on 5 Apr 2023 and carries 6 submissions.

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 retrievedPALB2 c.682C>T reported as Pathogenic on 2022-03-12.
2Variant normalisedResolved to ClinVar VCV000484222 (rs1327399690) and keyed as PALB2:c.682C>T.
3Current evidence retrievedRead live from ClinVar: Pathogenic, 6 submissions, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Pathogenic. Current interpretation normalised to Pathogenic. Codes are identical, so no reclassification has occurred.
5Regional sources comparedRegional index asserts Pathogenic, consistent with the global reading.
6Impacted records identified12,482 findings checked; 3 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.

Global and regional evidence

Sources agree

Global

Pathogenic

Submissions: 6
Review status: Reviewed by expert panel
Last evaluated: 5 Apr 2023
Reference frequency: 1.00e-5

Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.

Regional

Pathogenic

Observations: 5
Cohort size: 5,400
Last updated: 2 Feb 2026
Regional frequency: 4.60e-4

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. Loss-of-function mechanism is not population dependent. Regional and global readings agree.

How the interpretation changed

PALB2 c.682C>T — the DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying PALB2 c.682C>T.
2022Reported as pathogenicNonsense change predicted to result in loss of function. Reported as pathogenic with management guidance.
2023Submissions accumulated6 independent submissions now contribute to the classification.
TodayVariantPulse identified the affected records3 historical records carry this variant and were flagged for clinical review.

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