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	5
DNA change	c.154C>A
BIC DNA change	273C>A
Protein change	p.L52I
Posterior P	0.004114034
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	0.03
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.03
Segregation LR	-
Pathology LR	-
Sum Family LR	0.125149957
Co-occurrence LR	1.067279157
case-control LR	-
Product of LRs	0.133569941
Comments	-
DB-ID	BRCA1_00243

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

273C>A

p.L52I

0.004114034

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.03

0.02

0.03

0.125149957

1.067279157

0.133569941

BRCA1_00243

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