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	20
DNA change	c.8503T>C
BIC DNA change	8731T>C
Protein change	p.S2835P
Posterior P	0.000863314
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.03
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.03
Segregation LR	0.10565456
Pathology LR	1.06
Sum Family LR	0.249459481
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.027937924
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

8731T>C

p.S2835P

0.000863314

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.03

0.02

0.03

0.10565456

1.06

0.249459481

0.027937924

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