Project HERA
BRCA1 variants
Every BRCA1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
BRCA1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
BRCA1
NM_007294.4:c.2597G>A
NP_009225.1:p.(R866H)
VUS
View →
BRCA1
NM_007294.4:c.2501G>A
NP_009225.1:p.(G834E)
VUS
View →
BRCA1
NM_007294.4:c.1387A>T
NP_009225.1:p.(K463*)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
View →
BRCA1
NM_007294.4:c.5266dup
NP_009225.1:p.(Q1756Pfs*74)
Pathogenic
View →
BRCA1
NM_007294.4:c.1387A>T
NP_009225.1:p.(K463*)
VUS
View →
BRCA1
NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
Likely Benign
View →
BRCA1
NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
View →
BRCA1
NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
View →
BRCA1
NM_007294.4:c.19C>T
NP_009225.1:p.(R7C)
VUS
View →
BRCA1
NM_007294.4:c.302-10_302-5delinsATTTTA
NP_009225.1:p.?
VUS
View →
BRCA1
NM_007294.4:c.4689C>G
NP_009225.1:p.(Y1563*)
Pathogenic
View →
BRCA1
NM_007294.4:c.2347A>G
NP_009225.1:p.(I783V)
Benign
View →
BRCA1
NM_007294.4:c.3170G>A
NP_009225.1:p.(S1057N)
VUS
View →
BRCA1
NM_007294.4:c.4935G>C
NP_009225.1:p.(R1645S)
Benign
View →
BRCA1
NM_007294.4:c.1367T>C
NP_009225.1:p.(I456T)
Likely Benign
View →
BRCA1
NM_007294.3:c.1568T>G
NP_009225.1:p.(L523W)
Likely Benign
View →
BRCA1
NM_007294.4:c.3700_3704del
NP_009225.1:p.(V1234Qfs*8)
Pathogenic
View →
BRCA1
NM_007294.4:c.738del
NP_009225.1:p.(N247Tfs*51)
Pathogenic
View →
BRCA1
NM_007294.4:c.2998_3003del
NP_009225.1:p.(E1000_E1001del)
Likely Benign
View →
BRCA1
NM_007294.4:c.5057A>G
NP_009225.1:p.(H1686R)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.2531G>C
NP_009225.1:p.(S844T)
Likely Benign
View →
BRCA1
NM_007294.3:c.5432A>G
NP_009225.1:p.(Q1811R)
VUS
View →
BRCA1
NM_007294.4:c.4189A>G
NP_009225.1:p.(R1397G)
VUS
View →
BRCA1
NM_007294.4:c.2182A>T
NP_009225.1:p.(R728*)
Pathogenic
View →
BRCA1
NM_007294.4:c.4720G>T
NP_009225.1:p.(D1574Y)
Likely Benign
View →
BRCA1
NM_007294.4:c.507G>A
NP_009225.1:p.(Q169=)
Likely Benign
View →
BRCA1
NM_007294.4:c.2657_2676del
NP_009225.1:p.(S886*)
Pathogenic
View →
BRCA1
NM_007294.4:c.670G>A
NP_009225.1:p.(A224T)
Likely Benign
View →
BRCA1
NM_007294.4:c.4450T>G
NP_009225.1:p.(S1484A)
Likely Benign
View →
BRCA1
NM_007294.3:c.5073A>G
NP_009225.1:p.(T1691=)
VUS
View →
BRCA1
NM_007294.3:c.1233T>G
NP_009225.1:p.(D411E)
—
View →
BRCA1
NM_007294.3:c.83T>C
NP_009225.1:p.(L28P)
—
View →
BRCA1
NM_007294.4:c.3271C>G
NP_009225.1:p.(P1091A)
VUS
View →
BRCA1
NM_007294.4:c.67G>A
NP_009225.1:p.(E23K)
Likely Benign
View →
BRCA1
NM_007294.4:c.80+5G>C
NP_009225.1:p.?
VUS
View →
BRCA1
NM_007294.3:c.68_69del
NP_009225.1:p.(E23Vfs*17)
Pathogenic
View →
BRCA1
NM_007294.3:c.615_622dup
NP_009225.1:p.(T208Nfs*29)
VUS
View →
BRCA1
NM_007294.3:c.32T>G
NP_009225.1:p.(V11G)
Likely Pathogenic
View →
BRCA1
NM_007294.3:c.5200T>A
NP_009225.1:p.(F1734I)
VUS
View →
BRCA1
NM_007294.4:c.4530G>A
NP_009225.1:p.(M1510I)
VUS
View →
BRCA1
NM_007294.4:c.4065_4068del
NP_009225.1:p.(N1355Kfs*10)
Pathogenic
View →
BRCA1
NM_007294.4:c.2063del
NP_009225.1:p.(T688Kfs*13)
Pathogenic
View →
BRCA1
NM_007294.3:c.2155A>G
NP_009225.1:p.(K719E)
Benign
View →
BRCA1
NM_007294.3:c.4211T>G
NP_009225.1:p.(L1404R)
VUS
View →
BRCA1
NM_007294.3:c.101C>T
NP_009225.1:p.(P34L)
Likely Pathogenic
View →
BRCA1
NM_007294.3:c.301+7G>A
NP_009225.1:p.?
Likely Benign
View →
BRCA1
NM_007294.3:c.5407-10G>A
NP_009225.1:p.?
VUS
View →
BRCA1
NM_007294.3:c.4159T>C
NP_009225.1:p.(S1387P)
Likely Benign
View →
BRCA1
NM_007294.3:c.4987-7A>G
NP_009225.1:p.?
Likely Pathogenic
View →
BRCA1
NM_007294.3:c.5140G>T
NP_009225.1:p.(V1714F)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.4327C>G
NP_009225.1:p.(R1443G)
Benign
View →
BRCA1
NM_007294.3:c.5561T>C
NP_009225.1:p.(L1854P)
Likely Pathogenic
View →
BRCA1
NM_007294.3:c.5522G>A
NP_009225.1:p.(S1841N)
VUS
View →
BRCA1
NM_007294.3:c.5089T>C
NP_009225.1:p.(C1697R)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.301+7G>A
NP_009225.1:p.?
Likely Benign
View →
BRCA1
NM_007294.4:c.1233T>G
NP_009225.1:p.(D411E)
Benign
View →
BRCA1
NM_007294.4:c.68_69del
NP_009225.1:p.(E23Vfs*17)
Pathogenic
View →
BRCA1
NM_007294.4:c.5089T>C
NP_009225.1:p.(C1697R)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.305C>G
NP_009225.1:p.(A102G)
Benign
View →
BRCA1
NM_007294.4:c.2155A>G
NP_009225.1:p.(K719E)
Benign
View →
BRCA1
NM_007294.4:c.212+3A>G
NP_009225.1:p.?
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.442-22_442-13del
NP_009225.1:p.?
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.5194-12G>A
NP_009225.1:p.?
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.191G>A
NP_009225.1:p.(C64Y)
Pathogenic
View →
BRCA1
NM_007294.4:c.135-1G>T
NP_009225.1:p.?
Pathogenic
View →
BRCA1
NM_007294.4:c.5509T>G
NP_009225.1:p.(W1837G)
VUS
View →
BRCA1
NM_007294.4:c.5090G>A
NP_009225.1:p.(C1697Y)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.425C>A
NP_009225.1:p.(P142H)
Benign
View →
BRCA1
NM_007294.4:c.131G>A
NP_009225.1:p.(C44Y)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.1534C>T
NP_009225.1:p.(L512F)
Benign
View →