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	Probably pathogenic
Exon	6
DNA change	c.230_238del
BIC DNA change	349delCGAGATTTA
Protein change	p.T77_F79del
Posterior P	0.983204312
IARC Class	4 - Likely 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	0.66
Segregation LR	1.8333
Pathology LR	16.4493
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	30.15650169
Comments	-
DB-ID	BRCA1_00308

1 entry in BRCA1

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

DB-ID

Unknown

349delCGAGATTTA

p.T77_F79del

0.983204312

4 - Likely Pathogenic

Parsons et al 2019

0.02

0.66

1.8333

16.4493

30.15650169

BRCA1_00308

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