Variant (rsID / SNP)

rs2066459

rs2066459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS1. Location: chromosome 2, position 190,708,712. Clinical significance in the table: Likely benign.

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Reference-table entries

PMS1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:190708712
Cytoband: 2q32.2
HGVS: NM_000534.5(PMS1):c.605G>A (p.Arg202Lys)
Allele change: Missense_R26K

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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