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Variant (rsID / SNP)

rs786201047

PMS2

rs786201047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,035,259. Clinical significance in the table: Pathogenic.

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Reference-table entries

PMS2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
7:6035259
Cytoband
7p22.1
HGVS
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
Allele change
Nonsense_S79X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer|Colorectal cancer, hereditary nonpolyposis, type 4

Public references

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