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Variant (rsID / SNP)

rs587781831

ATM

rs587781831 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,106,446. 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
11:108106446
Cytoband
11q22.3
HGVS
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast cancer, susceptibility to|Ataxia-telangiectasia syndrome

Public references

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