Patient record

VP-10397

45-54 · Female · Diagnostic work-up

No material change

Current evidence agrees with the interpretation issued for this record.

Patient summary

Record: VP-10397
Age band: 45-54
Sex: Female
Test date: 11 Jul 2023
Reporting laboratory: Genomics Core Laboratory
Ordering department: Breast Surgery
Clinical owner: Dr. N. Farouk
Last contact: 2 Aug 2023
Indication: Diagnostic work-up

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

Historical finding

ClinVar

BRCA1c.5585A>G (p.His1862Arg)

Panel: Hereditary cancer panel
Condition: Hereditary breast and ovarian cancer
ClinVar: VCV000462678
dbSNP: rs80357183
As reported: Uncertain significance
Reported on: 30 Jun 2023

Missense change with limited submission history. Reported as uncertain significance.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Uncertain significance
Consensus status: Single submitter
Evidence confidence: Limited1 of 4 review criteria met
Last evaluated: 30 Jun 2017
Submissions: 1
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr17:43045685 (GRCh38)

Evidence summary

Decision support

Current evidence for BRCA1 c.5585A>G agrees with the uncertain significance interpretation issued in 2023. The classification was last evaluated on 30 Jun 2017 and carries a single submission.

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.5585A>G reported as Uncertain significance on 2023-06-30.
2Variant normalisedResolved to ClinVar VCV000462678 (rs80357183) and keyed as BRCA1:c.5585A>G.
3Current evidence retrievedRead live from ClinVar: Uncertain significance, 1 submission, criteria provided, single submitter.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Uncertain significance. Codes are identical, so no reclassification has occurred.
5Regional sources comparedNo regional evidence is held for this variant.
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.

How the interpretation changed

BRCA1 c.5585A>G — the DNA is unchanged. The evidence around it is not.

2023Genetic test performedFirst record on file carrying BRCA1 c.5585A>G.
2023Reported as uncertain significanceMissense change with limited submission history. Reported as uncertain significance.
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.