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	5
DNA change	c.476-1G>A
BIC DNA change	IVS5-1G>A
Protein change	-
Posterior P	0.988886359
IARC Class	4 - Likely Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	0.97
Other Prior P	0.02
Combined prior P	0.97
Segregation LR	1.2313
Pathology LR	-
Sum Family LR	2.181297031
Co-occurrence LR	1.024615386
case-control LR	-
Product of LRs	2.751943801
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

IVS5-1G>A

0.988886359

4 - Likely Pathogenic

Parsons et al 2019

0.97

0.02

0.97

1.2313

2.181297031

1.024615386

2.751943801

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