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	12
DNA change	c.6935A>T
BIC DNA change	7163A>T
Protein change	p.D2312V
Posterior P	2.66083E-05
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	0.5
Other Prior P	0.02
Combined prior P	0.5
Segregation LR	0.0124
Pathology LR	-
Sum Family LR	1.159101664
Co-occurrence LR	0.001851336
case-control LR	-
Product of LRs	0.000026609
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

7163A>T

p.D2312V

2.66083E-05

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.5

0.02

0.5

0.0124

1.159101664

0.001851336

0.000026609

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