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Table 3 Classification of mutations and non-synonymous variants

From: Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2

Classification

Gene

Allele

IDS

HGVS cDNA

BIC

ClinVar

GVGD prediction

Path

TN

Bilat

Family Hist

Age diag

Pathogenic

BRCA1

188insAG

rs80357914

c.69_70insAG

2X

  

IDC&LC

No

No

No

35

Pathogenic

BRCA1

189del11

rs80359877

c.70_80del

11X

  

IDC

Yes

No

No

29

Pathogenic

BRCA1

5210delTG

rs80357710

c.5091_5092delTG

2X

  

IDC

Yes

No

1-2nd

32

Pathogenic

BRCA1

G1788D

rs80357069

c.5363G>A

5X

  

IDC

No

No

No

38

*

BRCA1

C1787S

rs80357065

c.5359T>A

5X

       

Pathogenic

BRCA2

Q742X

rs80358494

c.2224C>T

2X

  

IDC

 

No

1-2nd

39

Pathogenic

BRCA2

E1308X

rs80358638

c.3922G>T

15X

  

IDC

No

No

No

41

Pathogenic

BRCA2

6005delT

 

c.5778delT

Not in BIC

  

IDC

No

No

No

35

VUS

BRCA1

E577Q

 

c.1729G>A

Not in BIC

No data

Class C0

IDC

Yes

No

1-2nd

49

VUS

BRCA2

F266L

rs587782433

c.796T>C

Not in BIC

1 VUS

Class C0

IDC

Yes

No

1-1st

61

VUS

BRCA2

D1781N

rs183478654

c.5341G>A

Not in BIC

1 VUS

Class C0

IDC&LC

    

Likely Benign

BRCA1

L1844R

rs80357323

c.5531T>G

3X

2LB

Class C0

     

Likely Benign/Benign

BRCA1

R504H

rs56272539

c.1511G>A

19X

2LB_1B

Class C0

     

Likely Benign/Benign

BRCA1

T826K

rs28897683

c.2477C>A

38X

1 LB _3B

Class C0

IDC

No

No

4 1st, 2 2nd

66

Likely Benign/Benign

BRCA1

R841W

rs1800709

c.2521C>T

119X

1 LB_4B

Class C15

    

44

Likely Benign/Benign

BRCA1

I1275V

rs80357280

c.3823A>G

13X

1 LB_2B

Class C0

IDC

Yes

No

No

 
  1. All rare non-synonymous and coding region insertions and deletions were classified from a combined analysis of data from ClinVar, the Breast Cancer Information Core (BIC), and conservation. The subject’s pathology classification (Path), triple-negative status (TN), bilateral disease status (bilat), family history (Hist), and age of diagnosis (Age) are shown
  2. IDC intraductal carcinoma, LC lobular carcinoma, 1 st first degree relative, 2 nd second degree relative
  3. aC1787S/G1788D occur in cis in the same subject
  4. bThis patient also carries the BRCA1 189del11 mutation