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 (#0001086)
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	Unknown
Exon	19
DNA change	c.5185C>G
BIC DNA change	5304C>G
Protein change	p.L1729V
Posterior P	0.056665864
IARC Class	3 - Uncertain
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.29
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.3
Segregation LR	-
Pathology LR	-
Sum Family LR	0.135673096
Co-occurrence LR	1.033092037
case-control LR	-
Product of LRs	0.140162795
Comments	-
DB-ID	BRCA1_00554

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

19

5304C>G

p.L1729V

0.056665864

3 - Uncertain

Parsons et al 2019

-

0.29

-

0.02

0.3

-

-

0.135673096

1.033092037

-

0.140162795

-

BRCA1_00554