Table 1 Eight variants remaining discordant in the two-tier model after review of the comparison reports

From: Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Transcript (gene)

DNA change

Amino acid change

No. of variant observations

Classification breakdown of variant observations

NM_000059.3 (BRCA2)

c.9371 A>T

p.Asn312Ile

7

1 P | 4 LP| 2 VUS

NM_007294.3 (BRCA1)

c.131G>T

p.Cys44Phe

4

2 P| 1 LP| 1 VUS

NM_000059.3 (BRCA2)

c.7992 T>A

p.Ile2664=

3

1 P| 2 VUS

NM_007294.3 (BRCA1)

c.1387 A>G

p.Lys463Glu

2

1 P | 1 VUS

NM_007294.3 (BRCA1)

c.4868C>G

p.Ala1623Gly

2

1 P | 1 VUS

NM_007294.3 (BRCA1)

c.4986+3G>C

 

2

1 LP | 1 VUS

NM_007294.3 (BRCA1)

c.5062_5064delGTT

p.Val1688del

2

1 P | 1 VUS

NM_000059.3 (BRCA2)

c.8487+3 A>G

 

2

1 P | 1 VUS

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