Variants from BRCAlab, Lund University

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
558	57	188	99	90	992

Gene and significance breakdown #

Total genes and gene combinations: 23

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BRCA2	218	8	129	64	49	468
BRCA1	188	22	46	31	33	320
BRCA1, LOC126862571	37	0	13	3	8	61
PALB2	19	3	0	0	0	22
ATM, C11orf65	18	3	0	0	0	21
ATM	16	4	0	0	0	20
TP53	12	7	0	0	0	19
CHEK2	9	5	0	0	0	14
BRIP1	11	2	0	0	0	13
RAD51C	8	0	0	0	0	8
BARD1	7	0	0	0	0	7
CDH1	4	1	0	0	0	5
BRCA1, NBR1, NBR2, TMEM106A	2	0	0	0	0	2
BRCA1, NBR2	2	0	0	0	0	2
RAD51D, RAD51L3-RFFL	1	1	0	0	0	2
BRCA1, LOC111589215	0	0	0	1	0	1
BRCA1, RND2	1	0	0	0	0	1
BRCA2, FRY, RXFP2, ZAR1L	1	0	0	0	0	1
BRCA2, LOC112163653	1	0	0	0	0	1
BRCA2, ZAR1L	1	0	0	0	0	1
DCTN5, PALB2	1	0	0	0	0	1
PTEN	1	0	0	0	0	1
TP53, WRAP53	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Breast-ovarian cancer, familial, susceptibility to, 2	221	8	129	64	49	471
Breast-ovarian cancer, familial, susceptibility to, 1	230	22	59	35	41	387
Familial cancer of breast	50	12	0	0	0	62
Hereditary cancer-predisposing syndrome	17	9	0	0	0	26
Hereditary breast ovarian cancer syndrome	20	3	0	0	0	23
Ovarian cancer	11	2	0	0	0	13
Breast-ovarian cancer, familial, susceptibility to, 3	8	0	0	0	0	8
Breast-ovarian cancer, familial, susceptibility to, 4	1	1	0	0	0	2

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