Patient record

VP-11408

65+ · Female · Family history of colorectal cancer

No material change

Current evidence agrees with the interpretation issued for this record.

Patient summary

Record: VP-11408
Age band: 65+
Sex: Female
Test date: 15 Mar 2023
Reporting laboratory: Genomics Core Laboratory
Ordering department: Gastroenterology
Clinical owner: Dr. H. Nassar
Last contact: 15 Mar 2024
Indication: Family history of colorectal cancer

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

Historical finding

ClinVar

MSH2c.2083G>A (p.Val695Met)

Panel: Hereditary cancer panel
Condition: Lynch syndrome
ClinVar: VCV000633496
dbSNP: rs772491283
As reported: Pathogenic
Reported on: 19 May 2022

Classified as pathogenic by expert-panel criteria. Surveillance pathway initiated at the time of reporting.

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: 18 Oct 2018
Submissions: 6
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr2:47476444 (GRCh38)

Evidence summary

Decision support

Current evidence for MSH2 c.2083G>A agrees with the pathogenic interpretation issued in 2022. The classification was last evaluated on 18 Oct 2018 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 retrievedMSH2 c.2083G>A reported as Pathogenic on 2022-05-19.
2Variant normalisedResolved to ClinVar VCV000633496 (rs772491283) and keyed as MSH2:c.2083G>A.
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 comparedNo regional evidence is held for this variant.
6Impacted records identified12,482 findings checked; 4 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

MSH2 c.2083G>A — the DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying MSH2 c.2083G>A.
2022Reported as pathogenicClassified as pathogenic by expert-panel criteria. Surveillance pathway initiated at the time of reporting.
2018Submissions accumulated6 independent submissions now contribute to the classification.
TodayVariantPulse identified the affected records4 historical records carry this variant and were flagged for clinical review.

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