Variant (rsID / SNP)
rs3218674
rs3218674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,115,587. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ATMBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108115587
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.735C>T (p.Val245=)
- Allele change
- Synonymous_V245V
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
