List of variants in gene SACS reported as benign by Athena Diagnostics Inc

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: 74

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)	rs2737701	0.98600
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)	rs2737700	0.36123
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)	rs4143768	0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=)	rs9552929	0.21755
NM_014363.6(SACS):c.1839G>A (p.Gln613=)	rs35840595	0.02863
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	rs17325713	0.02528
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)	rs17078601	0.02418
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)	rs17078608	0.01409
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	rs35670472	0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	rs11554397	0.00978
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	rs35799469	0.00804
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)	rs35369023	0.00706
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	rs34389000	0.00705
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn)	rs78827970	0.00691
NM_014363.6(SACS):c.4188C>T (p.His1396=)	rs61754477	0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)	rs9550956	0.00688
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)	rs35865691	0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	rs35256065	0.00558
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)	rs78239814	0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	0.00521
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	rs146722795	0.00506
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	rs112630127	0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	rs116791509	0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	rs113595574	0.00447
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)	rs80132141	0.00343
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	rs111540787	0.00332
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	rs148878361	0.00292
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)	rs61753111	0.00281
NM_014363.6(SACS):c.5307T>C (p.His1769=)	rs145747008	0.00264
NM_014363.6(SACS):c.2721G>A (p.Leu907=)	rs140118958	0.00255
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	rs137856939	0.00236
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	rs61729954	0.00227
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	rs36061856	0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	rs146451611	0.00197
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)	rs139279302	0.00192
NM_014363.6(SACS):c.2988A>G (p.Leu996=)	rs111846884	0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)	rs147317123	0.00168
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)	rs116907814	0.00149
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)	rs142967124	0.00134
NM_014363.6(SACS):c.13374C>T (p.Phe4458=)	rs148914536	0.00111
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)	rs140034972	0.00109
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)	rs147506904	0.00099
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	rs146376949	0.00087
NM_014363.6(SACS):c.1917A>G (p.Ala639=)	rs138457742	0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)	rs192610957	0.00084
NM_014363.6(SACS):c.1374A>G (p.Thr458=)	rs149129638	0.00076
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)	rs146852400	0.00075
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)	rs139517699	0.00070
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)	rs142869943	0.00056
NM_014363.6(SACS):c.3144A>G (p.Val1048=)	rs3751369	0.00035
NM_014363.6(SACS):c.3828A>G (p.Pro1276=)	rs369988818	0.00035
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)	rs200735789	0.00032
NM_014363.6(SACS):c.2580A>G (p.Gln860=)	rs41283958	0.00031
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)	rs141982796	0.00030
NM_014363.6(SACS):c.1884C>T (p.Pro628=)	rs144468379	0.00023
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)	rs144303334	0.00021
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)	rs150532740	0.00019
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)	rs145680118	0.00017
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)	rs76872266	0.00016
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=)	rs759326217	0.00014
NM_014363.6(SACS):c.10221A>G (p.Leu3407=)	rs143243372	0.00009
NM_014363.6(SACS):c.10482A>G (p.Leu3494=)	rs149643158	0.00008
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)	rs773770705	0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=)	rs2274386	0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	rs376680832	0.00004
NM_014363.6(SACS):c.6240T>C (p.Val2080=)	rs550680855	0.00002
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)	rs148286091
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	rs370655945
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)	rs139993038
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	rs144267558
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)	rs797045938
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	rs34928783
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile)	rs386768924
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)	rs11839380

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