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Table 3 Novel variants identified in this study

From: Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso

 

Gene

Location

HGSV nucleotide

HGSV protein

Number of carriers

Functional domain

Mutation taster

PolyPhen-2

CADD Score

ACMG Criteria

Novel variants

BRCA1

Exonic

c.872T>A

p.Leu291*

1

No

Disease causing

–

35

PVS1, PM2, PP3

  

Exonic

c.2359G>A

p.Glu787Lys

1

No

Polymorphism

Possibly damaging

14.77

PM2, BP4

  1. ACMG: American College of Medical Genetics; CADD: Combined Annotation Dependent Depletion
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Human Genomics

ISSN: 1479-7364