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	17
DNA change	c.5074+6C>G
BIC DNA change	IVS17+6C>G
Protein change	-
Posterior P	5.98132E-08
IARC Class	1 - Not pathogenic or of no 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	0.004977646
Pathology LR	0.000244592
Sum Family LR	0.700353645
Co-occurrence LR	1.68354305
case-control LR	-
Product of LRs	0.00000143552
Comments	-
DB-ID	BRCA1_00715

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

IVS17+6C>G

5.98132E-08

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.04

0.02

0.04

0.004977646

0.000244592

0.700353645

1.68354305

0.00000143552

BRCA1_00715

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