List of variants in gene combination ATM, C11orf65 reported as pathogenic 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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	rs587779852	0.00004
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.6096-9_6096-5del	rs879254095
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)	rs1282099124
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	rs121434220
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)	rs1060501695
NM_000051.4(ATM):c.8418+5_8418+8del	rs730881295
NM_000051.4(ATM):c.8655dup (p.Val2886fs)	rs753961188
NM_000051.4(ATM):c.8850+1G>A	rs1555143620

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.