Project HERA
ATM variants
Every ATM variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
ATM variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
ATM
NM_000051.4:c.2930G>A
NP_000042.3:p.(C977Y)
VUS
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ATM
NM_000051.4:c.8418+5_8418+8del
NP_000042.3:p.?
VUS
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ATM
NM_000051.4:c.8052_8055del
NP_000042.3:p.(Q2684Hfs*8)
Pathogenic
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ATM
NM_000051.4:c.4300A>T
NP_000042.3:p.(K1434*)
Pathogenic
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ATM
NM_000051.3:c.67C>T
NP_000042.3:p.(R23*)
Pathogenic
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ATM
NM_000051.3:c.5515C>T
NP_000042.3:p.(Q1839*)
Pathogenic
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ATM
NM_000051.3:c.4397_4398delinsCG
NP_000042.3:p.(R1466P)
VUS
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ATM
NM_000051.4:c.2222A>G
NP_000042.3:p.(Y741C)
VUS
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ATM
NM_000051.4:c.8315del
NP_000042.3:p.(G2772Efs*34)
Pathogenic
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ATM
NM_000051.4:c.7517_7520del
NP_000042.3:p.(R2506Tfs*3)
Pathogenic
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ATM
NM_000051.4:c.2333A>G
NP_000042.3:p.(N778S)
VUS
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ATM
NM_000051.4:c.8362C>T
NP_000042.3:p.(H2788Y)
VUS
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ATM
NM_000051.4:c.3137T>C
NP_000042.3:p.(L1046P)
Likely Pathogenic
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ATM
NM_000051.4:c.6059G>T
NP_000042.3:p.(G2020V)
VUS
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ATM
NM_000051.4:c.2207C>T
NP_000042.3:p.(A736V)
VUS
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ATM
NM_000051.4:c.8395_8404del
NP_000042.3:p.(F2799Kfs*4)
Likely Pathogenic
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