List of variants in gene PMS2 reported as benign for Breast and/or ovarian cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.705+17A>G	rs62456182	0.33782
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)	rs74902811	0.02492
NM_000535.7(PMS2):c.1488C>T (p.His496=)	rs1805320	0.02307
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)	rs141458772	0.00560
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)	rs115052399	0.00370
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)	rs138049175	0.00348
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)	rs141893001	0.00203
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)	rs576055272	0.00004
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	rs63750685
NM_000535.7(PMS2):c.706-4del	rs60794673

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.