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Variant (rsID / SNP)

rs553286217

PMS2

rs553286217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,017,317. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PMS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:6017317
Cytoband
7p22.1
HGVS
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
Allele change
Missense_V592I

Associated conditions / phenotypes

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

Public references

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