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 pathogenic
Exon	2
DNA change	c.1A>G
BIC DNA change	120A>G
Protein change	p.M1V
Posterior P	0.985491446
IARC Class	4 - Likely Pathogenic
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	0.96
Segregation LR	1.27139304
Pathology LR	2.226064
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	2.830202277
Comments	-
DB-ID	BRCA1_00279

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

120A>G

p.M1V

0.985491446

4 - Likely Pathogenic

Parsons et al 2019

0.02

0.96

1.27139304

2.226064

2.830202277

BRCA1_00279

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