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Variant (rsID / SNP)

rs587776547

ATM

rs587776547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,202,612. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ATMPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
Deletion
Chromosome / position
11:108202612
Cytoband
11q22.3
HGVS
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)

Associated conditions / phenotypes

T-cell prolymphocytic leukemia|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast neoplasm|Familial cancer of breast|Malignant tumor of breast|Breast and/or ovarian cancer

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.