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Hereditary cancer-predisposing syndrome

MSH2 · rs786203553

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 nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Malignant tumor of breast, Lynch syndrome 1, Lynch syndrome and 1 more; criteria provided, conflicting classifications (1 of 4 stars, 10 submitters), last evaluated 2026-07-26. ClinVar record 455581 NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)

Classification Conflicting classifications of pathogenicity for Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1; criteria provided, conflicting classifications (1 of 4 stars, 5 submitters), last evaluated 2025-06-03. ClinVar record 187208 NM_000251.3(MSH2):c.2684C>G (p.Pro895Arg)

Classification Uncertain significance for Hereditary cancer-predisposing syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2020-10-30. ClinVar record 1794705 NM_000251.3(MSH2):c.2684C>A (p.Pro895His)

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 2026-11-09 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 VCV000187208, criteria provided, conflicting classifications)
C/G 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 VCV000187208, criteria provided, conflicting classifications)
G/G 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 VCV000187208, criteria provided, conflicting classifications)

Source: ClinVar VCV000187208, criteria provided, conflicting classifications

Quoting this page

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Hereditary cancer-predisposing syndrome (rs786203553). MyGeneLog™. https://www.mygenelog.com/variants/rs786203553

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