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

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	14
DNA change	c.4479_4484+2dup
BIC DNA change	4598_4603+2dup
Protein change	-
Posterior P	0.988
IARC Class	4 - Likely pathogenic
Key Observational Reference	Whiley et al., 2011
Prior P reference	Vallee et al. 2016
Missense analysis Prior P	-
Splicing prior P	0.97
Other Prior P	0.00
Combined prior P	0.97
Segregation LR	0.95
Pathology LR	2.58
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	2.45
Comments	-
DB-ID	BRCA1_00126

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

4598_4603+2dup

0.988

4 - Likely pathogenic

0.97

0.00

0.97

0.95

2.58

2.45

BRCA1_00126

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