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Variant (rsID / SNP)

rs1458321358

PMS2

rs1458321358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,037,051. 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
7:6037051
Cytoband
7p22.1
HGVS
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
Allele change
Nonsense_Q46X

Associated conditions / phenotypes

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

Public references

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