Variant (rsID / SNP)
rs576055272
rs576055272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,017,308. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PMS2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6017308
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
- Allele change
- Missense_L595M
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|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.