ARIANE - BRCA1/2 Variant Classification

Gene

HGVS c. notation

p. notation (optional)

Duplication arrangement

Select Confirmed tandem only when supported by laboratory data. Otherwise keep Unknown.

Total points:

Functional evidence available (Table 9) - benign computational criteria (BP4/BP7) suppressed

AlphaMissense (informational only - not included in ENIGMA VCEP scoring)

What to check next:

ARIANE review triage: priority

Why it was flagged

What RNA evidence should document

Potential ENIGMA branches:

Open ENIGMA specification

Why it was flagged

What to check

Potential ENIGMA branch:

Reference source:

Open ENIGMA specification

Why it was flagged

What to check

Potential ENIGMA branch:

Reference source:

Open ENIGMA specification

Applied criteria

Criterion	Strength	Points	Reason

Manually reviewed criteria

Add evidence that cannot be automated. The original Module 1 result remains unchanged; ARIANE calculates a separate amended working result.

Assessor Assessment date

Working result including user-provided evidence

Total points:

This amended result is audit support, not an independent clinical classification. The reviewer remains responsible for evidence validity and applicability.

Criterion	ARIANE suggestion	Selected strength	Points
		reviewer override

Assessor: ; date:

Warnings

External comparison

ClinVar

Aggregate classification
Review status
ClinVar review stars
Submitters
Conflict	Yes - conflicting interpretations

Submitter details

Submitter	Classification	Date	Review	Curated status

ENIGMA Expert Panel

ENIGMA EP classification
Source

Criteria sources and supplementary material

Direct links to the ENIGMA BRCA1/2 VCEP v1.2 documents used to implement ARIANE and to the ClinVar review-status guidance.

Enter one variant per line. Both formats are accepted:

BRCA1, c.509G>A, p.(Arg170Gln)          <-- gene, c.notation, p.notation
BRCA1, c.509G>A p.(Arg170Gln)            <-- p.notation appended to c.notation
BRCA2, c.5351T>A                         <-- without p.notation

A header row starting with gene or # is skipped automatically.

Results ( classified, errors)

#	Gene	c. notation	p. notation	Class	Points	Criteria	Review	Warnings