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	3
DNA change	c.116C>T
BIC DNA change	344C>T
Protein change	p.A39V
Posterior P	0.0022093
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	0.02
Segregation LR	-
Pathology LR	-
Sum Family LR	0.098439155
Co-occurrence LR	1.102157073
case-control LR	-
Product of LRs	0.108495411
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

344C>T

p.A39V

0.0022093

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.03

0.02

0.098439155

1.102157073

0.108495411

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