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	No known pathogenicity
Exon	18
DNA change	c.7994A>G
BIC DNA change	8222A>G
Protein change	p.D2665G
Posterior P	2.60071E-07
IARC Class	1 - Not pathogenic or of no clinical significance
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	0.000008098
Pathology LR	0.2415
Sum Family LR	0.2427082
Co-occurrence LR	0.128523294
case-control LR	-
Product of LRs	0.0000000610044
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

8222A>G

p.D2665G

2.60071E-07

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.81

0.02

0.81

0.000008098

0.2415

0.2427082

0.128523294

0.0000000610044

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