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

Variant data
Allele	Unknown
Reported pathogenicity	-
Concluded pathogenicity	-
Exon	14
DNA change	c.7008-?_7805+?del
BIC DNA change	Exon 14-16del
Protein change	-
Posterior P	0.999995353
IARC Class	5 - Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.81
Segregation LR	2786.035295
Pathology LR	18.11956739
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	50481.75429
Comments	-

1 entry in BRCA2

Path.

Allele

Exon

DNA change

BIC DNA change

Protein change

Posterior P

IARC Class

Key Observational Reference

Prior P reference

Missense analysis Prior P

Splicing prior P

Other Prior P

Combined prior P

Segregation LR

Pathology LR

Sum Family LR

Co-occurrence LR

case-control LR

Product of LRs

Comments

Unknown

Exon 14-16del

0.999995353

5 - Pathogenic

Parsons et al 2019

0.02

0.81

2786.035295

18.11956739

50481.75429

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