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

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

Breast Cancer Type 1 susceptibility protein (BRCA1)

LOVD v.2.0 Build 22 [ Current LOVD status ]
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Curators: Julie Boyle and HCI / Tavtigian Lab

Patient data (#0000749)
Disease	-
Reference	United States:Salt Lake City
Template	DNA
Technique	SEQ
Remarks	-
# Reported	1
Submitter	Tiana Francy

Variant data
Allele	Unknown
Reported pathogenicity	-
Concluded pathogenicity	-
Exon	3
DNA change	c.131G>T
BIC DNA change	250G>T
Protein change	p.C44F
Posterior P	0.999963582
IARC Class	5 - Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.81
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.81
Segregation LR	156.1745
Pathology LR	41.240528
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	6440.71884
Comments	-
DB-ID	BRCA1_00217

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

3

250G>T

p.C44F

0.999963582

5 - Pathogenic

Parsons et al 2019

-

0.81

-

0.02

0.81

156.1745

41.240528

-

-

-

6440.71884

-

BRCA1_00217