Table 1 ATM variants identified by targeted-sequencing in the case-and control-probands participating in the Australian Breast Cancer Family Registry
Variant type | HGVSc a | HGVSp a | Number of Relatives Who Are Carriers/Tested/Total | Number of Relatives with Breast Cancer Who Are Carriers/Tested/Total | |
|---|---|---|---|---|---|
Case proband | Nonsense | NM_000051.4:c.9139C>T | NP_000042.3:p.Arg3047* | 2/2/31 | 0/0/1 |
Nonsense | NM_000051.4:c.5623C>T | NP_000042.3:p.Arg1875* | 0/0/16 | 0/0/0 | |
Nonsense | NM_000051.4:c.8098A>T | NP_000042.3:p.Lys2700* | 0/1/17 | 0/0/0 | |
Nonsense | NM_000051.4:c.7792C>T | NP_000042.3:p.Arg2598* | 0/0/22 | 0/0/0 | |
Nonsense | NM_000051.4:c.1396C>T | NP_000042.3:p.Gln466* | 3/3/33 | 0/0/1 | |
Nonsense | NM_000051.4:c.5515C>T | NP_000042.3:p.Gln1839* | 0/0/15 | 0/0/0 | |
Nonsense | NM_000051.4:c.8977C>T | NP_000042.3:p.Arg2993* | 1/1/30 | 0/0/0 | |
Nonsense | NM_000051.4:c.3658G>T | NP_000042.3:p.Glu1220* | 0/1/68 | 0/1/1 | |
Frameshift | NM_000051.4:c.5156delA | NP_000042.3:p.Asn1719Ilefs*5 | 2/2/19 | 0/0/0 | |
Frameshift | NM_000051.4:c.8264_8268delATAAG | NP_000042.3:p.Tyr2755Cysfs*12 | 1/1/90 | 1/1/1 | |
Frameshift | NM_000051.4:c.1355delC | NP_000042.3:p.Thr452Asnfs*21 | 0/1/17 | 0/0/0 | |
Frameshift | NM_000051.4:c.5712dupA | NP_000042.3:p.Ser1905Ilefs*25 | 0/0/23 | 0/0/1 | |
Frameshift | NM_000051.4:c.3802delG | NP_000042.3:p.Val1268* | 0/1/20 | 0/0/0 | |
Frameshift | NM_000051.4:c.7957_7960dupATTA | NP_000042.3:p.Thr2654Asnfs*3 | 2/2/15 | 0/0/0 | |
Frameshift | NM_000051.4:c.6671dupT | NP_000042.3:p.Met2224Ilefs*25 | 0/3/53 | 0/0/1 | |
Splice region | NM_000051.4:c.8418+5_8418+8delGTGA | 0/1/36 | 0/0/1 | ||
Splice region | NM_000051.4:c.8418 + 5_8418+8delGTGA | 0/2/36 | 0/0/1 | ||
Splice acceptor | NM_000051.4:c.8672-6_8672-2delCTTTA | 0/0/22 | 0/0/0 | ||
Splice acceptor | NM_000051.4:c.1236-2_1237delinsTTTTT | 0/0/46 | 0/0/0 | ||
Missense | NM_000051.4:c.8122G>A | NP_000042.3:p.Asp2708Asn | 3/6/83 | 0/0/3 | |
Missense | NM_000051.4:c.8494C>T | NP_000042.3:p.Arg2832Cys | 0/0/19 | 0/0/0 | |
Missense | NM_000051.4:c.7271T>G | NP_000042.3:p.Val2424Gly | 2/4/19 | 2/2/2 | |
Missense | NM_000051.4:c.8494C>T | NP_000042.3:p.Arg2832Cys | 0/0/18 | 0/0/0 | |
Missense | NM_000051.4:c.8741T>C | NP_000042.3:p.Ile2914Thr | 1/2/34 | 0/0/0 | |
Missense | NM_000051.4:c.8494C>T | NP_000042.3:p.Arg2832Cys | 0/0/31 | 0/0/0 | |
Control proband | Nonsense | NM_000051.4:c.9151G> T | NP_000042.3:p.Gly3051* | 0/0/28 | 0/0/2 |
Nonsense | NM_000051.4:c.1039G> T | NP_000042.3:p.Glu347* | 0/0/16 | 0/0/0 | |
Nonsense | NM_000051.4:c.64G>T | NP_000042.3:p.Glu22* | 0/0/25 | 0/0/0 | |
Nonsense | NM_000051.4:c.5029G>T | NP_000042.3:p.Glu1677* | 0/0/33 | 0/0/2 | |
Splice acceptor | NM_000051.4:c.3078-1G>A | 0/0/23 | 0/0/0 | ||
Missense | NM_000051.4:c.8734A>G | NP_000042.3:p.Arg2912Gly | 0/0/19 | 0/0/0 | |
Missense | NM_000051.4:c.7375C>T | NP_000042.3:p.Arg2459Cys | 0/0/13 | 0/0/0 | |
Missense | NM_000051.4:c.8558C>T | NP_000042.3:p.Thr2853Met | 0/0/36 | 0/0/2 | |
Inframe deletion | NM_000051.4:c.7638_7646delTAGAATTTC | NP_000042.3:p.Arg2547_Ser2549del | 0/0/23 | 0/0/0 |