Database statistics - Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified using a quantitative integrated evaluation

Variants per exon

exon	# variants	percentage of variants per exon
0	1
1	3
10	8
11	232
12	20
13	13
14	12
15	18
16	28
17	18
18	18
19	9
2	22
20	19
21	13
22	9
23	14
24	13
3	11
5	17
6	11
7	9
8	13
9	9
total	540

Please note that numbers shown hereafter can deviate from the numbers when you click on a variant link. Reasons for these differences can be that a variant is reported more than once (see # Reported field) or a homozygous variant.

DNA variants

variant	number	location
		5'start	coding	intron	3'stop
substitutions	505	2	390	113	0
deletions	28	0	15	13	0
duplications	5	0	0	5	0
insertion/deletions	1	0	0	1	0
unknown	1	-	-	-	-
totals	540	2	405	132	0

Variants not observed: insertions, inversions, 2 variants in 1 allele, complex

Protein variants

variant	number	percentages
substitutions	true: 389
deletions	true: 10
complex	1
unknown	140
total	540

Variants not observed: duplications, insertions, insertion/deletions, 2 variants in 1 allele, frame shifts, no protein variants, nonstop variants, nonsense, translation initiation variant, silent

Legend:

true

predicted

Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified using a quantitative integrated evaluation

Breast Cancer Type 1 susceptibility protein (BRCA1)