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Variant (rsID / SNP)

rs876659736

PMS2

rs876659736 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,035,243. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PMS2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
7:6035243
Cytoband
7p22.1
HGVS
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
Allele change
Synonymous_Q84Q

Associated conditions / phenotypes

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