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Table 1 BRCA2 variants identified in the index case and classified as benign in ClinVar (RefSeq NM_000059.3)

From: Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

Variant (HGVS nomenclature)

Effect protein level

c.-26G > A

p.?

c.425 + 67A > C

p.?

c.865A > C

p.(Asn289His)

c.1365A > G

p.(Ser455=)

c.1910-51G > T

p.?

c.2229 T > C

p.(His743=)

c.2971A > G

p.(Asn991Asp)

c.3396A > G

p.(Lys1132=)

c.4563A > G

p.(Leu1521=)

c.6513G > C

p.(Val2171=)

c.7806-14 T > C

p.?

c.8460A > C

p.(Val2820=)

c.9843A > G

p.(Pro3281=)

c.10234A > G

p.(Ile3412Val