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Hereditary cancer-predisposing syndrome

ATM · rs2135339757

Where this position leads

Drug: Metformin

rs2135339757 Drug: Metformin Metformin Drug rs2135339757 rs2135339757 ATM

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, Ataxia-telangiectasia syndrome; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2024-10-29. ClinVar record 1777111 NM_000051.4(ATM):c.1644C>T (p.Thr548=)

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 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 VCV001777111, 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 VCV001777111, criteria provided, conflicting classifications)
T/T 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 VCV001777111, criteria provided, conflicting classifications)

Source: ClinVar VCV001777111, criteria provided, conflicting classifications

Questions about rs2135339757

What is rs2135339757?

rs2135339757 is a single position in the genome, in or near the ATM gene. Published research associates it with hereditary cancer-predisposing syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs2135339757 affect how medicines work?

ATM carries pharmacogenomic findings for Metformin. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs2135339757 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 rs2135339757 come from?

ClinVar VCV001777111, criteria provided, conflicting classifications. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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 (rs2135339757). MyGeneLog™. https://www.mygenelog.com/variants/rs2135339757

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