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	-
Exon	1
DNA change	c.(?_-227)_67+?del
BIC DNA change	Exon 1-2del
Protein change	-
Posterior P	0.997329073
IARC Class	5 - Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.96
Segregation LR	13.338828
Pathology LR	1.1664
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	15.55840898
Comments	Deletion spans exons 1 and 2, including the translation initiation methionine

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

Exon 1-2del

0.997329073

5 - Pathogenic

Parsons et al 2019

0.02

0.96

13.338828

1.1664

15.55840898

Deletion spans exons 1 and 2, including the translation initiation methionine

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