Sensitive

Breast-ovarian cancer, familial, susceptibility to, 1

BRCA1 · rs80357393

Where this position leads

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 Conflicting classifications of pathogenicity for Breast-ovarian cancer, familial, susceptibility to, 1, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome; criteria provided, conflicting classifications (1 of 4 stars, 5 submitters), last evaluated 2022-03-20. ClinVar record 55594 NM_007294.4(BRCA1):c.5488G>A (p.Ala1830Thr)

Classification Likely pathogenic for Breast-ovarian cancer, familial, susceptibility to, 1, Ovarian cancer; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2022-01-01. ClinVar record 864931 NM_007294.4(BRCA1):c.5488G>T (p.Ala1830Ser)

Classification - for Breast-ovarian cancer, familial, susceptibility to, 1; - (0 of 4 stars, 1 submitter). ClinVar record 868984 NM_007294.4(BRCA1):c.5488G>C (p.Ala1830Pro)

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 likely disease-causing for Breast-ovarian cancer, familial, susceptibility to, 1. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000864931, criteria provided, single submitter)

A/C One copy of the version ClinVar lists as likely disease-causing for Breast-ovarian cancer, familial, susceptibility to, 1. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000864931, criteria provided, single submitter)

C/C No copy of the version ClinVar lists as likely disease-causing for Breast-ovarian cancer, familial, susceptibility to, 1. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000864931, criteria provided, single submitter)

Source: ClinVar VCV000864931, criteria provided, single submitter

Questions about rs80357393

What is rs80357393?

rs80357393 is a single position in the genome, in or near the BRCA1 gene. Published research associates it with breast-ovarian cancer, familial, susceptibility to, 1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs80357393 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 rs80357393 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 rs80357393 come from?

ClinVar VCV000864931, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Breast-ovarian cancer, familial, susceptibility to, 1 (rs80357393). MyGeneLog™. https://www.mygenelog.com/variants/rs80357393

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