Sensitive

Hereditary cancer-predisposing syndrome

BRCA1 · rs397509266

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

4 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 3 of 4 stars.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Pathogenic for Hereditary cancer-predisposing syndrome, Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 1, Hereditary breast ovarian cancer syndrome, BRCA1-related cancer predisposition; reviewed by expert panel (3 of 4 stars, 11 submitters), last evaluated 2026-09-21. ClinVar record 55538 NM_007294.4(BRCA1):c.5333-6T>G

Classification Likely benign for Breast-ovarian cancer, familial, susceptibility to, 1, Hereditary breast ovarian cancer syndrome; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2024-06-11. ClinVar record 868015 NM_007294.4(BRCA1):c.5333-6T>C

Classification - for Breast-ovarian cancer, familial, susceptibility to, 1; - (0 of 4 stars, 1 submitter). ClinVar record 868014 NM_007294.4(BRCA1):c.5333-6T>A

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version ClinVar lists as disease-causing for Hereditary cancer-predisposing syndrome. This is the usual result. (ClinVar VCV000055538, reviewed by expert panel)

A/C One copy of the version ClinVar lists as disease-causing for Hereditary cancer-predisposing syndrome. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV000055538, reviewed by expert panel)

C/C Two copies of the version ClinVar lists as disease-causing for Hereditary cancer-predisposing syndrome. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000055538, reviewed by expert panel)

Source: ClinVar VCV000055538, reviewed by expert panel

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Hereditary cancer-predisposing syndrome (rs397509266). MyGeneLog™. https://www.mygenelog.com/variants/rs397509266

← See all variants