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	12
DNA change	c.4132G>A
BIC DNA change	4251G>A
Protein change	p.V1378I
Posterior P	2.60554E-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	0.02
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.02
Segregation LR	0.0443
Pathology LR	0.041556378
Sum Family LR	0.425576634
Co-occurrence LR	1.629615745
case-control LR	-
Product of LRs	0.001276746
Comments	-
DB-ID	BRCA1_00447

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

4251G>A

p.V1378I

2.60554E-05

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.0443

0.041556378

0.425576634

1.629615745

0.001276746

BRCA1_00447

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