Patient record

VP-10849

45-54 · Female · Family history of breast cancer

No material change

Current evidence agrees with the interpretation issued for this record.

Patient summary

Record: VP-10849
Age band: 45-54
Sex: Female
Test date: 3 Oct 2022
Reporting laboratory: Genomics Core Laboratory
Ordering department: Clinical Genetics
Clinical owner: Dr. L. Haddad
Last contact: 15 Oct 2024
Indication: Family history of breast cancer

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

Historical finding

ClinVar

BRCA1c.1140dup (p.Lys381fs)

Panel: Hereditary cancer panel
Condition: Hereditary breast and ovarian cancer
ClinVar: VCV000231732
dbSNP: rs876659327
As reported: Pathogenic
Reported on: 3 Oct 2022

Frameshift change reported as pathogenic by expert-panel criteria. Surveillance and cascade testing offered.

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: 15 Dec 2017
Submissions: 12
Molecular consequence: frameshift variant
Variant type: Duplication
Location: chr17:43094390 (GRCh38)

Evidence summary

Decision support

Current evidence for BRCA1 c.1140dup agrees with the pathogenic interpretation issued in 2022. The classification was last evaluated on 15 Dec 2017 and carries 12 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 retrievedBRCA1 c.1140dup reported as Pathogenic on 2022-10-03.
2Variant normalisedResolved to ClinVar VCV000231732 (rs876659327) and keyed as BRCA1:c.1140dup.
3Current evidence retrievedServed from the bundled snapshot: Pathogenic, 12 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; 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.

Global and regional evidence

Sources agree

Global · ClinVar

Pathogenic

reviewed by expert panel · Last evaluated 15 Dec 2017

Regional · Regional Evidence Index

Pathogenic

0 observations in 3,042 · updated 25 Sept 2026

Sources consistent

Both lanes fall in the same clinical band.

Both sources place this variant in the same band.

Global

Pathogenic

Submissions: 12
Review status: Reviewed by expert panel
Last evaluated: 15 Dec 2017
Reference frequency: Not reported

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

Regional

Pathogenic

Observations: 0
Cohort size: 3,042
Last updated: 25 Sept 2026
Regional frequency: 0.00e+0

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. CTGA records this frameshift in a UAE family (Rawashdeh et al. 2024) and a Yemeni patient (Al-Ali et al. 2023). Regional and global readings agree: pathogenic. Included as a control, so the system shows it does not raise an alert when nothing has changed.

How the interpretation changed

BRCA1 c.1140dup. The DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying BRCA1 c.1140dup.
2022Reported as pathogenicFrameshift change reported as pathogenic by expert-panel criteria. Surveillance and cascade testing offered.
2017Submissions accumulated12 independent submissions now contribute to the classification.
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.