List of variants in gene BRIP1 reported as likely pathogenic by Ambry Genetics

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: 109

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)	rs730881645	0.00006
NM_032043.3(BRIP1):c.918+1G>A	rs587781655	0.00006
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	rs149364097	0.00004
NM_032043.3(BRIP1):c.2492+2dup	rs587780240	0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)	rs374334794	0.00003
NM_032043.3(BRIP1):c.1794+1G>A	rs766516963	0.00001
NM_032043.3(BRIP1):c.1794+1G>C	rs766516963	0.00001
NM_032043.3(BRIP1):c.2379+1G>A	rs1555590286	0.00001
NM_032043.3(BRIP1):c.2905+3A>G	rs1555573247	0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)	rs1420431000	0.00001
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)	rs777367075	0.00001
NM_032043.2:c.(627+1_628-1)_(1473+1_1474-1)dup
NM_032043.2:c.577_578insALU
NM_032043.3(BRIP1):c.1140+1G>A	rs1555607628
NM_032043.3(BRIP1):c.1140+3del	rs2145331108
NM_032043.3(BRIP1):c.1140+6T>C
NM_032043.3(BRIP1):c.1141-1G>C
NM_032043.3(BRIP1):c.1141-2A>G
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)	rs1603342316
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
NM_032043.3(BRIP1):c.128T>A (p.Leu43Ter)
NM_032043.3(BRIP1):c.1340+1G>A	rs1555607022
NM_032043.3(BRIP1):c.1340+2_1340+5del	rs2077945546
NM_032043.3(BRIP1):c.1341-3C>G	rs864622597
NM_032043.3(BRIP1):c.1473+1G>A	rs748274524
NM_032043.3(BRIP1):c.1473+4_1473+8del	rs730881650
NM_032043.3(BRIP1):c.1474-1G>A	rs1555603638
NM_032043.3(BRIP1):c.1474-2A>G	rs1603337052
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)	rs2078973424
NM_032043.3(BRIP1):c.1628+1G>C	rs1438975574
NM_032043.3(BRIP1):c.1628+5G>A	rs754929230
NM_032043.3(BRIP1):c.1629-1G>C	rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T	rs1060501757
NM_032043.3(BRIP1):c.1629-2A>G
NM_032043.3(BRIP1):c.1794+2T>A
NM_032043.3(BRIP1):c.1795-1G>A	rs1368457771
NM_032043.3(BRIP1):c.1936-1G>A	rs1555601204
NM_032043.3(BRIP1):c.1936-2A>G	rs878855143
NM_032043.3(BRIP1):c.204_205+1delinsAGT
NM_032043.3(BRIP1):c.2097+1G>C	rs786202941
NM_032043.3(BRIP1):c.2098-1G>T
NM_032043.3(BRIP1):c.2098-3_2098-1delinsAA
NM_032043.3(BRIP1):c.2258-1G>A	rs1064793887
NM_032043.3(BRIP1):c.2370_2379+20del	rs2144674380
NM_032043.3(BRIP1):c.2379+1G>T	rs1555590286
NM_032043.3(BRIP1):c.2380-1G>A	rs1567756032
NM_032043.3(BRIP1):c.2492+1G>A
NM_032043.3(BRIP1):c.2492+1G>C	rs1567755539
NM_032043.3(BRIP1):c.2492+1del	rs1603293314
NM_032043.3(BRIP1):c.2492_2492+5del	rs1603293306
NM_032043.3(BRIP1):c.2493-12_2505del
NM_032043.3(BRIP1):c.2493-1G>A	rs786203451
NM_032043.3(BRIP1):c.2493-1G>C	rs786203451
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)	rs45572934
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T	rs1567737536
NM_032043.3(BRIP1):c.2575+2dup	rs1555574711
NM_032043.3(BRIP1):c.2576-2A>G	rs869312763
NM_032043.3(BRIP1):c.2859del (p.Asn955fs)
NM_032043.3(BRIP1):c.2905+1G>A	rs876660203
NM_032043.3(BRIP1):c.2905+1G>C
NM_032043.3(BRIP1):c.2905+1G>T	rs876660203
NM_032043.3(BRIP1):c.2905+2T>C	rs1603276502
NM_032043.3(BRIP1):c.2905+3A>T
NM_032043.3(BRIP1):c.2986C>T (p.Gln996Ter)
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)	rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)	rs1603275526
NM_032043.3(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs)	rs1555572799
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)	rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)	rs777213170
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)	rs1603275367
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)	rs786202927
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	rs779741278
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)	rs771654971
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)	rs1060501774
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)	rs1603275179
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)	rs1426528935
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	rs778664039
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)	rs876660100
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)	rs753683450
NM_032043.3(BRIP1):c.379+1G>A	rs1437158047
NM_032043.3(BRIP1):c.379+1del
NM_032043.3(BRIP1):c.507+1G>T	rs2145761239
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)	rs876660937
NM_032043.3(BRIP1):c.507G>C (p.Gln169His)
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)	rs876660937
NM_032043.3(BRIP1):c.508-1G>C	rs864622277
NM_032043.3(BRIP1):c.508-1G>T	rs864622277
NM_032043.3(BRIP1):c.508-2A>G	rs876659707
NM_032043.3(BRIP1):c.508-2A>T	rs876659707
NM_032043.3(BRIP1):c.627+1G>A	rs587780833
NM_032043.3(BRIP1):c.627+1G>T	rs587780833
NM_032043.3(BRIP1):c.627+2T>A	rs2078745026
NM_032043.3(BRIP1):c.628-3C>G
NM_032043.3(BRIP1):c.628-5_629del	rs1555609402
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)	rs1603368431
NM_032043.3(BRIP1):c.727A>G (p.Ile243Val)
NM_032043.3(BRIP1):c.72del (p.Gln25fs)
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)	rs2078971612
NM_032043.3(BRIP1):c.90_93+4del
NM_032043.3(BRIP1):c.918+2T>C	rs1603346587
NM_032043.3(BRIP1):c.93+1G>A	rs587782047
NM_032043.3(BRIP1):c.93+1G>T	rs587782047
NM_032043.3(BRIP1):c.93+2del
NM_032043.3(BRIP1):c.93+2dup	rs786202125
NM_032043.3(BRIP1):c.93+4_93+7del	rs1224034842
NM_032043.3(BRIP1):c.93+5G>A	rs730881629
NM_032043.3(BRIP1):c.93+5G>C	rs730881629
NM_032043.3(BRIP1):c.94-2A>G

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