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	20
DNA change	c.5278-14C>G
BIC DNA change	IVS20-14C>G
Protein change	-
Posterior P	7.92665E-10
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	0.04
Other Prior P	0.02
Combined prior P	0.04
Segregation LR	0.10493265
Pathology LR	0.0374
Sum Family LR	0.140767195
Co-occurrence LR	1.577415842
case-control LR	2.18309E-05
Product of LRs	0.000000019024
Comments	-
DB-ID	BRCA1_00698

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

7.92665E-10

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.04

0.02

0.04

0.10493265

0.0374

0.140767195

1.577415842

2.18309E-05

0.000000019024

BRCA1_00698

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