Variant (rsID / SNP)
rs34640941
rs34640941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,160,516. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ATMConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108160516
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
- Allele change
- Missense_Y1475C
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|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.