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 no pathogenicity
Exon	8
DNA change	c.548-13G>T
BIC DNA change	IVS8-13G>T
Protein change	-
Posterior P	0.011738473
IARC Class	2 - Likely not pathogenic or of little clinical significance
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	0.04
Other Prior P	0.02
Combined prior P	0.04
Segregation LR	-
Pathology LR	-
Sum Family LR	0.275938267
Co-occurrence LR	1.033092037
case-control LR	-
Product of LRs	0.285069626
Comments	-
DB-ID	BRCA1_00603

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

IVS8-13G>T

0.011738473

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.04

0.02

0.04

0.275938267

1.033092037

0.285069626

BRCA1_00603

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