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 (#0001279)
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.8486A>G
BIC DNA change	8714A>G
Protein change	p.Q2829R
Posterior P	0.933371967
IARC Class	3 - Uncertain
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.03
Splicing prior P	0.34
Other Prior P	0.02
Combined prior P	0.34
Segregation LR	14.29500979
Pathology LR	1.902297
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	27.19335423
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

19

8714A>G

p.Q2829R

0.933371967

3 - Uncertain

Parsons et al 2019

-

0.03

0.34

0.02

0.34

14.29500979

1.902297

-

-

-

27.19335423

-