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	19
DNA change	c.8351G>A
BIC DNA change	8579G>A
Protein change	p.R2784Q
Posterior P	1.69404E-05
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.66
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.66
Segregation LR	0.000106872
Pathology LR	1.134894587
Sum Family LR	1.480815593
Co-occurrence LR	0.048590003
case-control LR	-
Product of LRs	0.00000872701
Comments	Two functional assays report that this variant has a complete functional impact (Mesman et al 2018, Hart et al 2018).

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

8579G>A

p.R2784Q

1.69404E-05

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.66

0.02

0.66

0.000106872

1.134894587

1.480815593

0.048590003

0.00000872701

Two functional assays report that this variant has a complete functional impact (Mesman et al 2018, Hart et al 2018).

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