Project HERA

BRCA2 variants

Every BRCA2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

116 variants page 2 of 2

BRCA2 variants

Newest first. Each row opens the full report, criterion by criterion.

16 shown

Variant

Protein change

Classification

BRCA2 NM_000059.4:c.9976A>T

NP_000050.3:p.(K3326*)

BRCA2 NM_000059.4:c.9227G>T

NP_000050.3:p.(G3076V)

Likely Pathogenic

BRCA2 NM_000059.4:c.9117G>A

NP_000050.3:p.(P3039=)

BRCA2 NM_000059.4:c.8149G>T

NP_000050.3:p.(A2717S)

BRCA2 NM_000059.4:c.663T>G

NP_000050.3:p.(F221L)

BRCA2 NM_000059.4:c.632-3C>G

NP_000050.3:p.?

BRCA2 NM_000059.4:c.8023A>G

NP_000050.3:p.(I2675V)

BRCA2 NM_000059.4:c.7977-1G>C

NP_000050.3:p.?

Likely Pathogenic

BRCA2 NM_000059.4:c.9234C>T

NP_000050.3:p.(V3078=)

BRCA2 NM_000059.4:c.7879A>T

NP_000050.3:p.(I2627F)

BRCA2 NM_000059.4:c.29_63del

NP_000050.3:p.(T10Sfs*9)

BRCA2 NM_000059.4:c.9014_9015del

NP_000050.3:p.(R3005Ifs*12)

BRCA2 NM_000059.4:c.2830A>T

NP_000050.3:p.(K944*)

BRCA2 NM_000059.4:c.3111A>G

NP_000050.3:p.(Q1037=)

BRCA2 NM_000059.4:c.4071A>C

NP_000050.3:p.(L1357=)

BRCA2 NM_000059.4:c.341A>G

NP_000050.3:p.(H114R)