Sensitive

Breast-ovarian cancer, familial, susceptibility to, 1

BRCA1 · rs397508968

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 Breast-ovarian cancer, familial, susceptibility to, 1; reviewed by expert panel (3 of 4 stars, 2 submitters), last evaluated 2016-10-18. ClinVar record 54569 NM_007294.4(BRCA1):c.2434A>T (p.Lys812Ter)

Classification Conflicting classifications of pathogenicity for Hereditary cancer-predisposing syndrome; criteria provided, conflicting classifications (1 of 4 stars, 3 submitters), last evaluated 2024-03-10. ClinVar record 1791205 NM_007294.4(BRCA1):c.2434A>G (p.Lys812Glu)

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 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. (ClinVar VCV000054569, reviewed by expert panel)

A/T One copy of the version ClinVar lists as 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. (ClinVar VCV000054569, reviewed by expert panel)

T/T No copy of the version ClinVar lists as disease-causing for Breast-ovarian cancer, familial, susceptibility to, 1. This is the usual result. (ClinVar VCV000054569, reviewed by expert panel)

Source: ClinVar VCV000054569, reviewed by expert panel

Questions about rs397508968

What is rs397508968?

rs397508968 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 rs397508968 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 rs397508968 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 rs397508968 come from?

ClinVar VCV000054569, 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

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Breast-ovarian cancer, familial, susceptibility to, 1 (rs397508968). MyGeneLog™. https://www.mygenelog.com/variants/rs397508968

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