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	11
DNA change	c.946A>G
BIC DNA change	1065A>G
Protein change	p.S316G
Posterior P	2.2104E-06
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.02
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.02
Segregation LR	0.0135756
Pathology LR	0.015497798
Sum Family LR	0.235668619
Co-occurrence LR	2.184420982
case-control LR	-
Product of LRs	0.00010831
Comments	-
DB-ID	BRCA1_00713

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

1065A>G

p.S316G

2.2104E-06

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.0135756

0.015497798

0.235668619

2.184420982

0.00010831

BRCA1_00713

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