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	16
DNA change	c.4941C>A
BIC DNA change	5060C>A
Protein change	p.N1647K
Posterior P	0.009213543
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	0.02
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.02
Segregation LR	0.1709
Pathology LR	3.31
Sum Family LR	0.779710926
Co-occurrence LR	1.033092037
case-control LR	-
Product of LRs	0.455661873
Comments	-
DB-ID	BRCA1_00524

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

5060C>A

p.N1647K

0.009213543

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.02

0.1709

3.31

0.779710926

1.033092037

0.455661873

BRCA1_00524

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