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 (#0000340)
Disease	-
Reference	United States:Salt Lake City
Template	DNA
Technique	SEQ
Remarks	-
# Reported	1
Submitter	Sean V. Tavtigian

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	12
DNA change	c.4097-15T>C
BIC DNA change	IVS11-15T>C
Protein change	-
Posterior P	0.131
IARC Class	3 - Uncertain
Key Observational Reference	Thomassen et al. 2012
Prior P reference	Vallee et al. 2016
Missense analysis Prior P	-
Splicing prior P	0.04
Other Prior P	0.00
Combined prior P	0.04
Segregation LR	3.44
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	1.05
case-control LR	-
Product of LRs	3.61
Comments	-
DB-ID	BRCA1_00149

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

12

IVS11-15T>C

-

0.131

3 - Uncertain

Thomassen et al. 2012

Vallee et al. 2016

-

0.04

0.00

0.04

3.44

-

-

1.05

-

3.61

-

BRCA1_00149