List of variants in gene ATM reported as pathogenic by ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	rs780619951	0.00004
NM_000051.4(ATM):c.1355del (p.Thr452fs)	rs587781776	0.00002
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)	rs876660485	0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)	rs1555070980	0.00001
NM_000051.4(ATM):c.1607+1G>T	rs772926890	0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	rs786203606	0.00001
NM_000051.4(ATM):c.3078-1G>A	rs750663117	0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)	rs1060501687	0.00001
NM_000051.4(ATM):c.332-1G>A	rs747855862	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs)	rs587779846	0.00001
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	rs786204751	0.00001
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)	rs1591517571
NM_000051.4(ATM):c.1158del (p.Lys387fs)	rs587782085
NM_000051.4(ATM):c.1782del (p.Val595fs)
NM_000051.4(ATM):c.217_218del (p.Glu73fs)	rs762089971
NM_000051.4(ATM):c.2508dup (p.Ser837fs)	rs770396940
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)	rs1064794437
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)	rs780240314
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	rs587776549
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)	rs786201957
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.387del (p.Asp130fs)	rs745642834
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)	rs1060501551
NM_000051.4(ATM):c.4389del (p.Phe1463fs)	rs2546910311
NM_000051.4(ATM):c.480_484del (p.Gln161fs)	rs2497022061
NM_000051.4(ATM):c.5177+1G>C	rs1131691159
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)	rs1060501571
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	rs775036118
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	rs746235533
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	rs772821016
NM_000051.4(ATM):c.790del (p.Tyr264fs)	rs587781978
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)	rs864622389
Single allele

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