Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license

Sensitive

Hereditary cancer-predisposing syndrome

BRCA1 · rs587778116

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 Hereditary cancer-predisposing syndrome, Familial pancreatic carcinoma, BRCA1-related cancer predisposition; criteria provided, conflicting classifications (1 of 4 stars, 4 submitters), last evaluated 2024-08-06. ClinVar record 1789716 NM_007294.4(BRCA1):c.2330A>T (p.Tyr777Phe)

Classification Conflicting classifications of pathogenicity for Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome; criteria provided, conflicting classifications (1 of 4 stars, 3 submitters), last evaluated 2023-09-21. ClinVar record 133723 NM_007294.4(BRCA1):c.2330A>G (p.Tyr777Cys)

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 Two copies of the version labs disagree about for Hereditary cancer-predisposing syndrome: in ClinVar, some labs call it disease-causing and others do not. 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 VCV000133723, criteria provided, conflicting classifications)
C/T One copy of the version labs disagree about for Hereditary cancer-predisposing syndrome: in ClinVar, some labs call it disease-causing and others do not, so what one copy means is not settled. A genetic counsellor can look at the separate records. (ClinVar VCV000133723, criteria provided, conflicting classifications)
T/T No copy of the version labs disagree about for Hereditary cancer-predisposing syndrome: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000133723, criteria provided, conflicting classifications)

Source: ClinVar VCV000133723, criteria provided, conflicting classifications

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Hereditary cancer-predisposing syndrome (rs587778116). MyGeneLog™. https://www.mygenelog.com/variants/rs587778116

← See all variants