List of variants reported as pathogenic for breast disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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		ClinVar version:

Total variants: 60

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	rs730881700	0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)	rs587780228	0.00003
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	rs180177110	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)	rs878855122	0.00002
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	rs564652222	0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)	rs587781707	0.00001
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)	rs758972589	0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)	rs730881411	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)	rs587782005	0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)	rs587780236	0.00001
NC_000002.11:g.(?_215590369)_(215617280_215632205)del
NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del
NC_000011.9:g.(108225602_108235808)_(108239827_?)del
NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del
NC_000016.9:g.(23634452_23635329)_(23635416_23637556)del
NC_000016.9:g.(23635416_23637556)_(23647656_23649170)del
NC_000016.9:g.(68771367_68772199)_(68772315_68835572)del
NC_000016.9:g.(?_23614482)_(23619334_23625324)del
NC_000016.9:g.(?_23614482)_(23637719_23640524)del
NM_000051.4(ATM):c.1450_1451del (p.Trp484fs)
NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)	rs768362387
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)	rs730881348
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)	rs1442299125
NM_000051.4(ATM):c.2754del (p.Phe918fs)	rs786202608
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)	rs2082872908
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)	rs1565469955
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)	rs2085078278
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	rs772821016
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)	rs587781353
NM_000465.4(BARD1):c.623del (p.Lys208fs)
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)	rs864622223
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)	rs1482641121
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)	rs121964878
NM_004360.5(CDH1):c.1999del (p.Leu667fs)	rs786202033
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)	rs1131690820
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)	rs587776410
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)	rs515726060
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)	rs869312772
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)	rs1555461294
NM_024675.4(PALB2):c.2052del (p.Arg686fs)	rs587782680
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)	rs180177111
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)	rs863224521
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)	rs730881868
NM_024675.4(PALB2):c.2835-1G>C	rs515726099
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)	rs886039683
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	rs515726123
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)	rs1555461765
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)	rs587782531
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092
NM_032043.3(BRIP1):c.1781T>G (p.Leu594Ter)

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