Sensitive

Breast-ovarian cancer, familial, susceptibility to, 1

BRCA1 · rs80357340

Where this position leads

Strength of the evidence

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 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 Likely pathogenic for Breast-ovarian cancer, familial, susceptibility to, 1, Hereditary cancer-predisposing syndrome; criteria provided, single submitter (1 of 4 stars, 3 submitters), last evaluated 2021-03-08. ClinVar record 55467 NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu)

Classification - for Breast-ovarian cancer, familial, susceptibility to, 1; - (0 of 4 stars, 1 submitter). ClinVar record 867856 NM_007294.4(BRCA1):c.5217T>C (p.Asp1739=)

Classification - for Breast-ovarian cancer, familial, susceptibility to, 1; - (0 of 4 stars, 1 submitter). ClinVar record 867855 NM_007294.4(BRCA1):c.5217T>A (p.Asp1739Glu)

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 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 VCV000055467, 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 VCV000055467, criteria provided, single submitter)

C/C 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 VCV000055467, criteria provided, single submitter)

Source: ClinVar VCV000055467, criteria provided, single submitter

Questions about rs80357340

What is rs80357340?

rs80357340 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 rs80357340 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 rs80357340 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 rs80357340 come from?

ClinVar VCV000055467, 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

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Breast-ovarian cancer, familial, susceptibility to, 1 (rs80357340). MyGeneLog™. https://www.mygenelog.com/variants/rs80357340

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