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

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	21
DNA change	c.5278-14C>G
BIC DNA change	IVS20-14C>G
Protein change	-
Posterior P	0.009
IARC Class	2 - Likely not pathogenic or of little clinical significance
Key Observational Reference	Whiley et al., 2011
Prior P reference	Vallee et al. 2016
Missense analysis Prior P	-
Splicing prior P	0.04
Other Prior P	0.00
Combined prior P	0.04
Segregation LR	-
Pathology LR	-
Sum Family LR	0.14
Co-occurrence LR	1.58
case-control LR	-
Product of LRs	0.22
Comments	-
DB-ID	BRCA1_00128

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

IVS20-14C>G

0.009

2 - Likely not pathogenic or of little clinical significance

0.04

0.00

0.04

0.14

1.58

0.22

BRCA1_00128

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