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	20
DNA change	c.5277+48_5277+59dup
BIC DNA change	IVS20+48dup12
Protein change	-
Posterior P	1.17503E-05
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	-
Other Prior P	0.02
Combined prior P	0.02
Segregation LR	0.392983377
Pathology LR	0.00146513
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.000575772
Comments	-
DB-ID	BRCA1_00696

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

IVS20+48dup12

1.17503E-05

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.392983377

0.00146513

0.000575772

BRCA1_00696

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