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	20
DNA change	c.5213G>A
BIC DNA change	5332G>A
Protein change	p.G1738E
Posterior P	0.981287815
IARC Class	4 - Likely Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.81
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.81
Segregation LR	1.176157506
Pathology LR	-
Sum Family LR	8.887506689
Co-occurrence LR	1.176779436
case-control LR	-
Product of LRs	12.30100219
Comments	-
DB-ID	BRCA1_00564

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

5332G>A

p.G1738E

0.981287815

4 - Likely Pathogenic

Parsons et al 2019

0.81

0.02

0.81

1.176157506

8.887506689

1.176779436

12.30100219

BRCA1_00564

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