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	2
DNA change	c.80+5G>A
BIC DNA change	IVS2+5G>A
Protein change	-
Posterior P	0.968819908
IARC Class	4 - Likely Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	0.34
Other Prior P	0.02
Combined prior P	0.34
Segregation LR	15.0547
Pathology LR	1.492
Sum Family LR	2.599266094
Co-occurrence LR	1.033092037
case-control LR	-
Product of LRs	60.31574334
Comments	-
DB-ID	BRCA1_00483

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

IVS2+5G>A

0.968819908

4 - Likely Pathogenic

Parsons et al 2019

0.34

0.02

0.34

15.0547

1.492

2.599266094

1.033092037

60.31574334

BRCA1_00483

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