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Hereditary breast ovarian cancer syndrome

BRCA2 · rs80359198

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

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 Likely benign for Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast neoplasm, Breast-ovarian cancer, familial, susceptibility to, 2, Malignant tumor of breast and 1 more; reviewed by expert panel (3 of 4 stars, 16 submitters), last evaluated 2017-06-29. ClinVar record 184910 NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)

Classification Pathogenic/Likely pathogenic for Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Inherited breast cancer and ovarian cancer; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-09-29. ClinVar record 252859 NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)

Classification Pathogenic for Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary cancer-predisposing syndrome, Familial cancer of breast, BRCA2-related cancer predisposition; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 15 submitters), last evaluated 2026-02-03. ClinVar record 52805 NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)

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

C/C No copy of the version ClinVar lists as disease-causing for Hereditary breast ovarian cancer syndrome. This is the usual result. (ClinVar VCV000052805, criteria provided, multiple submitters, no conflicts)
C/G 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 VCV000052805, criteria provided, multiple submitters, no conflicts)
G/G 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 VCV000052805, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000052805, criteria provided, multiple submitters, no conflicts

Quoting this page

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Hereditary breast ovarian cancer syndrome (rs80359198). MyGeneLog™. https://www.mygenelog.com/variants/rs80359198

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