Variant (rsID / SNP)
rs121434629
rs121434629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,045,549. Clinical significance in the table: Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6045549
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Pituitary carcinoma|Colorectal cancer, hereditary nonpolyposis, type 4|Turcot syndrome|Mismatch repair cancer syndrome 4|Endometrial carcinoma|Lynch syndrome 1|Breast and/or ovarian cancer|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.