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Table 4 BRCA1/2 missense variants identified in 94 (non Askenazi) Argentinean breast/ovarian cancer cases

From: BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

HGVS : Protein: DNA

BIC: Status

N° Carrier (%)

Co-occurrence with deleterious

Prediction SIFT GVGD grade

refSNP

BRCA1

       

p. Arg7Cys

c.19C > T

CU

2(1.1)

-

NT

C15

rs144792613

p. Cys61Gly

c.181 T > G

D

1 (1.1)

-

NT

C65

-

p. Arg71Gly

c.211A > G

D

1 (1.1)

-

NT

C65

-

p. Val122Asp

c.365 T > A

NR

5 (5.3)

BRCA2

T

C0

-

p. Gln139Lys

c.415C > A

NR

6 (6.3)

-

T

C0

-

p. Tyr179Cys

c.536A > G

CU

1 (1.1)

BRCA1[30] (AB80)

NT

C35

rs56187033

p. Gln356Arg

c.1067A > G

CU

10 (10.6)

BRCA1/BRCA2#

T

C0

rs1799950

p. Phe486Leu

c.1456 T > C

CU

1 (1.1)

BRCA1[30] (AB80)

T

C0

rs55906931

p. Val525Ile

c.1573 G > A

CU

1 (1.1)

-

T

C0

rs80357273

p. Asn550His

c.1648A > C

CU

1 (1.1)

BRCA1[30] (AB80)

NT

C0

rs56012641

p. Asp693Asn

c.2077 G > A

CN

8 (8.5)

BRCA1

T

C0

rs4986850

p. Pro871Leu

c.2612C > T

CN

29 (30.9)

BRCA1/BRCA2#

T

C0

rs799917

p. Lys898Glu

c.2692A > G

CU

1 (1.1)

BRCA2

T

C0

rs80357420

p. Met1008Ile

c.3024 G > A

CU

1 (1.1)

BRCA1[30]

T

C0

rs1800704

p. Glu1038Gly

c.3113 G > A

CN

33 (35.1)

BRCA1/BRCA2#

T

C0

rs16941

p. Ser1040Asn

c.3119 G > A

CU

1 (1.1)

BRCA1[31]

T

C0

rs4986852

p. Asp1131Glu

c.3393C > G

NR

1 (1.1)

BRCA2

T

C0

-

p. Lys1183Arg

c.3548A > G

CN

34 (36.2)

BRCA1/BRCA2#

T

C0

rs16942

p. Ile1275Val

c.3823A > G

CU

8 (8.5)

-

T

C0

rs80357280

p. Glu1586Gly

c.4757A > G

NR

1 (1.1)

-

NT

C0

-

p. Ser1613Gly

c.4837A > G

CN

33 (35.1)

BRCA1/BRCA#

T

C0

rs1799966

p. Met1652Thr

c.4955 T > C

CU

1 (1.1)

-

NT

C25

rs80356968

BRCA2

       

p. Tyr42Cys

c.125A > G

CU(BIC)

1 (1.1)

-

T

C0

rs4987046

p. Asn289His

c.865A > C

CN

5 (5.3)

BRCA2

NT

C0

rs766173

p. His372Asn

c.1114C > A

CN

24 (4.2)

BRCA1/BRCA2#

T

C0

rs144848

p. Arg858Ile

c.2578 G > T

NR

1 (1.1)

BRCA2

T

C0

-

p. Asn991Asp

c.2971A > G

CN

4 (4.2)

BRCA2

T

C0

rs1799944

p.Q1063K

c.3187C > A

NR

1 (1.1)

-

T

C0

-

p. Asp1420Tyr

c.4258 G > A

CN

1 (1.1)

BRCA2[32]

T

C0

rs28897727

p. Met1915Thr

c.5744 T > C

CU

1 (1.1)

-

T

C0

rs4987117

p. Ser2098Phe

c.6749C > T

CU

1 (1.1)

-

T

C0

rs80358867

p. Arg2108His

c.6323 G > A

CU

1.(1.1)

-

T

C0

rs35029074

p. Ala2466Val

c.7397C > T

CU

37 (39.4)

BRCA1/BRCA2#

NT

C0

rs169547

p. Asn2486Lys

c.7919 T > G

NR

1(1.1)

-

T

C0

-

p. Ile2490Thr

c.7469 T > C

CU

6 (6.3)

-

NT

C0

rs11571707

p. Asp2723His

c.8167 G > C

CU

1 (1.1)

-

NT

C65

rs41293511

p. Ile3412Val

c.10690A > G

CU

3 (3.2)

-

T

C0

rs1801426

  1. NR, Not Reported CU, Clinically Unknown; CN, clinically not important, in Breast Information Core database (BIC), http://research.nhgri.nih.gov/bic/;
  2. In bold missense predict deleterious; NT, Not Tolerated; T, Tolerated; Align-GVGD grade between C0 and C65; Co-occurrence: # two or more patients.