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 (#0000895)
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	13
DNA change	c.4357+1G>T
BIC DNA change	IVS13+1G>T
Protein change	-
Posterior P	0.993968273
IARC Class	5 - Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	0.97
Other Prior P	0.02
Combined prior P	0.97
Segregation LR	0.67480032
Pathology LR	-
Sum Family LR	6.630542421
Co-occurrence LR	1.1390848
case-control LR	-
Product of LRs	5.096598175
Comments	-
DB-ID	BRCA1_00363

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

13

IVS13+1G>T

-

0.993968273

5 - Pathogenic

Parsons et al 2019

-

-

0.97

0.02

0.97

0.67480032

-

6.630542421

1.1390848

-

5.096598175

-

BRCA1_00363