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Variant (rsID / SNP)

rs149827260

ATM

rs149827260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,199,832. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ATMUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:108199832
Cytoband
11q22.3
HGVS
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
Allele change
Missense_R2392W

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast

Public references

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