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	11
DNA change	c.1534C>T
BIC DNA change	1653C>T
Protein change	p.L512F
Posterior P	0.000142962
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	0.999899983
Pathology LR	0.12
Sum Family LR	0.033572095
Co-occurrence LR	1.739254919
case-control LR	-
Product of LRs	0.007006151
Comments	-
DB-ID	BRCA1_00242

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

1653C>T

p.L512F

0.000142962

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.999899983

0.12

0.033572095

1.739254919

0.007006151

BRCA1_00242

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