BRCA2 · rs80358928
Where this position leads
Condition: Ovarian Cancer
Strength of the evidence
ClinVar classifies it as disease-causing (or likely), reviewed at 3 of 4 stars.
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 Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Familial cancer of breast, BRCA2-related cancer predisposition; reviewed by expert panel (3 of 4 stars, 19 submitters), last evaluated 2016-09-08.
ClinVar record 52250 NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
Classification
Uncertain significance for Hereditary cancer-predisposing syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-11-24.
ClinVar record 1756738 NM_000059.4(BRCA2):c.7024C>G (p.Gln2342Glu)
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.
Source: ClinVar VCV000052250, reviewed by expert panel
rs80358928 is a single position in the genome, in or near the BRCA2 gene. Published research associates it with breast-ovarian cancer, familial, susceptibility to, 2. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Ovarian Cancer. The research behind each link, and its sources, are set out on that condition page.
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.
ClinVar VCV000052250, 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.
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Breast-ovarian cancer, familial, susceptibility to, 2 (rs80358928). MyGeneLog™. https://www.mygenelog.com/variants/rs80358928