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	2
DNA change	c.52C>T
BIC DNA change	280C>T
Protein change	p.R18C
Posterior P	0.012984563
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	0.29
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.29
Segregation LR	0.0366
Pathology LR	0.88
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.032208
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

280C>T

p.R18C

0.012984563

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.29

0.02

0.29

0.0366

0.88

0.032208

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