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	Probably no pathogenicity
Exon	11
DNA change	c.4159T>A
BIC DNA change	4387T>A
Protein change	p.L1387I
Posterior P	0.00157336
IARC Class	2 - Likely not pathogenic or of little 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	0.184
Pathology LR	-
Sum Family LR	0.399731529
Co-occurrence LR	1.049836689
case-control LR	-
Product of LRs	0.07721612
Comments	-

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

4387T>A

p.L1387I

0.00157336

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.02

0.184

0.399731529

1.049836689

0.07721612

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