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 2 susceptibility protein (BRCA2)

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

Patient data (#0001947)
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	18
DNA change	c.8057T>C
BIC DNA change	8285T>C
Protein change	p.L2686P
Posterior P	-
IARC Class	-
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.66
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.66
Segregation LR	-
Pathology LR	-
Sum Family LR	1.701629425
Co-occurrence LR	1.024615386
case-control LR	-
Product of LRs	1.743515689
Comments	-

1 entry in BRCA2

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

-

Unknown

18

8285T>C

p.L2686P

-

-

Parsons et al 2019

-

0.66

-

0.02

0.66

-

-

1.701629425

1.024615386

-

1.743515689

-