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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