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

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	17
DNA change	c.5062_5064del
BIC DNA change	5181del3
Protein change	p.V1688del
Posterior P	0.99312
IARC Class	5 - Definitely pathogenic
Key Observational Reference	Easton et al. 2007
Prior P reference	Easton et al. 2007
Missense analysis Prior P	0.35
Splicing prior P	0.02
Other Prior P	0.00
Combined prior P	0.35
Segregation LR	16.98
Pathology LR	-
Sum Family LR	13.49
Co-occurrence LR	1.17
case-control LR	-
Product of LRs	268.00
Comments	-
DB-ID	BRCA1_00156

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

5181del3

p.V1688del

0.99312

5 - Definitely pathogenic

0.35

0.02

0.00

0.35

16.98

13.49

1.17

268.00

BRCA1_00156

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