Sensitive

Hereditary breast ovarian cancer syndrome

BRCA2 · rs80358600

Where this position leads

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 breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2; reviewed by expert panel (3 of 4 stars, 2 submitters), last evaluated 2017-12-15. ClinVar record 409595 NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)

Classification Benign for Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1, Breast and/or ovarian cancer and 1 more; reviewed by expert panel (3 of 4 stars, 34 submitters), last evaluated 2015-08-10. ClinVar record 41546 NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)

Classification Conflicting classifications of pathogenicity for Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary cancer-predisposing syndrome, BRCA2-related disorder, Familial cancer of breast and 1 more; criteria provided, conflicting classifications (1 of 4 stars, 18 submitters), last evaluated 2026-06-12. ClinVar record 51480 NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)

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 Two copies of the version ClinVar lists as disease-causing for Hereditary breast ovarian cancer 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 VCV000409595, reviewed by expert panel)

A/C One copy of the version ClinVar lists as disease-causing for Hereditary breast ovarian cancer 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 VCV000409595, reviewed by expert panel)

C/C No copy of the version ClinVar lists as disease-causing for Hereditary breast ovarian cancer syndrome. This is the usual result. (ClinVar VCV000409595, reviewed by expert panel)

Source: ClinVar VCV000409595, reviewed by expert panel

Questions about rs80358600

What is rs80358600?

rs80358600 is a single position in the genome, in or near the BRCA2 gene. Published research associates it with hereditary breast ovarian cancer syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs80358600 linked to?

On MyGeneLog this position is linked to Ovarian Cancer. The research behind each link, and its sources, are set out on that condition page.

Does having rs80358600 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs80358600 come from?

ClinVar VCV000409595, reviewed by expert panel. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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 breast ovarian cancer syndrome (rs80358600). MyGeneLog™. https://www.mygenelog.com/variants/rs80358600

← See all variants