Variants from German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

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)

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
272	276	180	137	22	885

Gene and significance breakdown #

Total genes and gene combinations: 29

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TP53	89	142	9	5	0	243
BRCA2	42	24	25	40	9	140
BRCA1	65	17	20	19	3	124
CHEK2	6	21	25	4	4	60
ATM	4	2	16	11	0	33
BRIP1	2	6	15	6	1	30
RAD51C	6	14	6	3	1	30
ATM, C11orf65	5	4	9	10	0	28
BARD1	2	7	10	7	0	26
PTEN	13	10	1	1	0	25
RAD51D, RAD51L3-RFFL	3	6	8	3	0	20
PALB2	2	3	5	8	1	19
MSH6	4	4	5	4	0	17
MLH1	2	1	7	3	1	14
BRCA1, LOC126862571	9	2	0	2	0	13
PIK3CA	6	7	0	0	0	13
CDH1	1	0	8	3	0	12
MSH2	4	1	5	0	2	12
PMS2	1	2	1	4	0	8
MAP3K1	4	1	0	0	0	5
STK11	0	0	2	3	0	5
BRCA1, LOC111589215	0	0	1	0	0	1
BRCA2, LOC106721785	0	0	1	0	0	1
LOC129390903, RAD51C	1	0	0	0	0	1
LOC129933707, MSH6	0	1	0	0	0	1
LOC130004273, MLDHR, PTEN	0	0	0	1	0	1
LOC130061311, RAD51C	1	0	0	0	0	1
MEN1	0	1	0	0	0	1
MRE11	0	0	1	0	0	1

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hereditary breast ovarian cancer syndrome	54	113	180	137	22	506
Ovarian neoplasm	220	166	0	0	0	386

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