Project HERA
BRIP1 variants
Every BRIP1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
BRIP1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
BRIP1
NM_032043.3:c.3459T>C
NP_114432.2:p.(D1153=)
Likely Benign
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BRIP1
NM_032043.3:c.2593C>T
NP_114432.2:p.(R865W)
VUS
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BRIP1
NM_032043.3:c.254C>T
NP_114432.2:p.(S85L)
VUS
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BRIP1
NM_032043.3:c.736A>G
NP_114432.2:p.(I246V)
VUS
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BRIP1
NM_032043.3:c.143C>A
NP_114432.2:p.(T48K)
VUS
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BRIP1
NM_032043.3:c.1794+19T>C
NP_114432.2:p.?
VUS
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BRIP1
NM_032043.3:c.1372G>C
NP_114432.2:p.(E458Q)
VUS
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BRIP1
NM_032043.3:c.476A>C
NP_114432.2:p.(K159T)
Likely Benign
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BRIP1
NM_032043.3:c.2085G>A
NP_114432.2:p.(L695=)
Likely Benign
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BRIP1
NM_032043.3:c.611C>G
NP_114432.2:p.(S204C)
VUS
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BRIP1
NM_032043.3:c.1171A>G
NP_114432.2:p.(I391V)
VUS
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BRIP1
NM_032043.3:c.1474-3T>C
NP_114432.2:p.?
VUS
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BRIP1
NM_032043.3:c.3069C>T
NP_114432.2:p.(L1023=)
VUS
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