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	No known pathogenicity
Exon	13
DNA change	c.6953G>A
BIC DNA change	7181G>A
Protein change	p.R2318Q
Posterior P	0.000237979
IARC Class	1 - Not pathogenic or of no 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	0.195476823
Pathology LR	1.086957
Sum Family LR	0.046302402
Co-occurrence LR	1.18556701
case-control LR	-
Product of LRs	0.011663725
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

7181G>A

p.R2318Q

0.000237979

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.195476823

1.086957

0.046302402

1.18556701

0.011663725

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