Patient record

VP-10876

35-44 · Female · Family history of breast cancer

MediumConsensus conflict

Submitters no longer agree on how this variant should be classified.

2022 · On file

Uncertain significance

Reported 21 Nov 2022

Science evolves

Today · ClinVar

Conflicting classifications

ClinVar last evaluated 31 Jan 2026 · Conflicting submissions

Patient summary

Record: VP-10876
Age band: 35-44
Sex: Female
Test date: 21 Nov 2022
Reporting laboratory: Genomics Core Laboratory
Ordering department: Clinical Genetics
Clinical owner: Dr. M. Suleiman
Last contact: 12 Dec 2022
Indication: Family history of breast cancer

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

Historical finding

ClinVar

BRCA1c.5123C>T (p.Ala1708Val)

Panel: Hereditary cancer panel
Condition: Hereditary breast and ovarian cancer
ClinVar: VCV000037640
dbSNP: rs28897696
As reported: Uncertain significance
Reported on: 21 Nov 2022

Missense change in the BRCT domain. Submitters agreed on uncertain significance at the time of reporting.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Conflicting classifications
Consensus status: Conflicting submissions
Evidence confidence: Limited1 of 4 review criteria met
Last evaluated: 31 Jan 2026
Submissions: 25
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr17:43063903 (GRCh38)

Evidence summary

Decision support

Submitters no longer agree on BRCA1 c.5123C>T. The 2022 report recorded uncertain significance, and current submissions are split rather than resolving to a single classification. A conflicting record is not the same as a benign one, and it is not the same as a pathogenic one. 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 retrievedBRCA1 c.5123C>T reported as Uncertain significance on 2022-11-21.
2Variant normalisedResolved to ClinVar VCV000037640 (rs28897696) and keyed as BRCA1:c.5123C>T.
3Current evidence retrievedRead live from ClinVar: Conflicting classifications of pathogenicity, 25 submissions, criteria provided, conflicting classifications.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Conflicting classifications. Current submissions disagree, so no single consensus exists.
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

BRCA1 c.5123C>T. The DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying BRCA1 c.5123C>T.
2022Reported as uncertain significanceMissense change in the BRCT domain. Submitters agreed on uncertain significance at the time of reporting.
2023Further literature published4 indexed publications appeared after the original report.
2026Submissions accumulated25 independent submissions now contribute to the classification.
2026Classification now conflicting classificationsLast evaluated 31 Jan 2026 · Conflicting submissions.
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.