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Table 2 BRCA2 associated pathogenic variants reported in African populations (RefSeq NM_000059.3)

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

HGVS nomenclature

Effect protein level

Exon

Country

Reference

c.582G > A

p.(Trp194Ter)

7

South Africa

[16]

c.771_775delTCAAA

p.(Asn257Lysfs

9

Egypt

[38]

c.1528G > T

p.(Glu510Ter)

10

Algeria

[35]

c.1310_1313delAAGA

p.(Lys437Ilefs)

10

Nigeria/Tunisia

[41, 42]

c.1362delA

p.(Lys454Asnfs)

10

Nigeria

[37]

c.5722_5723delCT

p.(Leu1908Argfs)

11

Algeria

[43]

c.6446_6450delTTAAA

p.(Ile2149Serfs)

11

Algeria

[35]

c.3381delT

p.(Phe1127Leufs)

11

Morocco

[39]

c.5073dupA

p.(Trp1692Metfs)

11

Morocco

[44]

c.6428C > A

p.(Ser2143Ter)

11

Morocco

[45]

c.2402_2412delACAATTATGAA

p.(Asn801Ilefs)

11

Nigeria

[37]

c.2808_2811del

p.(Ala938Profs)

11

Nigeria

[37]

c.5130_5133delTGTA

p.(Tyr1710Terfs)

11

Nigeria

[37]

c.5141_5144delATTT

p.(Tyr1714Cysfs)

11

Nigeria

[37]

c.5353_5354delAC

p.(Thr1785Terfs)

11

Nigeria

[37]

c.3195_3198delTAAT

p.(Asn1066Leufs)

11

Soudan

[36]

c.6406_6407delTT

p.(Leu2136Lysfs)

11

Soudan

[36]

c.4798_4800delAAT

p.(Asn1600del)

11

South Africa

[16]

c.5213_5216delCTTA

p.(Thr1738Ilefs)

11

South Africa

[16]

c.5771_5774delTTCA

p.(Ile1924Argfs)

11

South Africa

[16]

c.5946delT

p.(Ser1982Argfs)

11

South Africa

[32]

c.6447_6448dupTA

p.(Lys2150Ilefs)

11

South Africa

[32]

c.6761_6762delTT

p.(Phe2254Tyrfs)

11

South Africa

[33]

c.5681dupA

p.(Tyr1894Terfs)

11

Tunisia

[40]

c.7110delA

p.(Lys2370Asnfs)

13

Morocco

[39]

c.7234_7235insG

p.(Thr2412Serfs)

13

Morocco

[39]

c.7254_7255delAG

p.(Arg2418Serfs)

14

Nigeria

[37]

c.6174delT

p.(Phe2058Leufs)

15

South Africa

[34]

c.7654dupA

p.(Ile2552Asnfs)

16

Algeria/Tunisia

[35, 46]

c.7934delG

p.(Arg2645Asnfs)

17

South Africa

[33]

c.8817_8820delGAAA

p.(Lys2939Asnfs)

22

Nigeria

[37]

c.9097dupA

p.(Thr3033Asnfs)

23

South Africa

[16]

c.9196C > T

p.(Gln3066Ter)

24

Nigeria

[37]