List of variants in gene PLEC reported as likely 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: 81

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)	rs62641756	0.00401
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp)	rs142805337	0.00374
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)	rs371421350	0.00329
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)	rs2857824	0.00301
NM_201384.3(PLEC):c.2458-8C>T	rs201818691	0.00159
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)	rs201574539	0.00155
NM_201384.3(PLEC):c.2237G>A (p.Arg746His)	rs200887085	0.00153
NM_201384.3(PLEC):c.1824C>T (p.Ser608=)	rs201927593	0.00144
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)	rs201655861	0.00141
NM_201384.3(PLEC):c.174+10del	rs528031000	0.00134
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)	rs187011732	0.00132
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)	rs200898220	0.00123
NM_201384.3(PLEC):c.4230C>T (p.Asp1410=)	rs111282136	0.00110
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)	rs376665854	0.00107
NM_201378.4(PLEC):c.71-11599T>C	rs201910266	0.00096
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)	rs146685404	0.00086
NM_201384.3(PLEC):c.3073G>A (p.Glu1025Lys)	rs150652392	0.00081
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)	rs370569372	0.00064
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)	rs377059744	0.00061
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)	rs201820569	0.00059
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)	rs200722246	0.00055
NM_201384.3(PLEC):c.540C>T (p.Cys180=)	rs189256993	0.00051
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)	rs781946435	0.00049
NM_201378.4(PLEC):c.71-11848G>A	rs371337955	0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)	rs371763907	0.00046
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)	rs782590380	0.00040
NM_201384.3(PLEC):c.13404G>A (p.Ala4468=)	rs183341386	0.00036
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)	rs368326361	0.00036
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)	rs372858742	0.00033
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)	rs370168097	0.00029
NM_201384.3(PLEC):c.1760G>A (p.Arg587Gln)	rs200259757	0.00027
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)	rs201069314	0.00026
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)	rs759030267	0.00024
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)	rs199990259	0.00023
NM_201384.3(PLEC):c.2268C>T (p.Thr756=)	rs371267446	0.00022
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)	rs375097273	0.00021
NM_201384.3(PLEC):c.5460C>T (p.Ala1820=)	rs782259899	0.00021
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln)	rs561571844	0.00017
NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe)	rs189061273	0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)	rs782202249	0.00016
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)	rs373952777	0.00016
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)	rs201765507	0.00015
NM_201384.3(PLEC):c.3286C>T (p.Arg1096Cys)	rs533410461	0.00014
NM_201384.3(PLEC):c.5443C>T (p.Arg1815Trp)	rs398123400	0.00014
NM_201384.3(PLEC):c.6424G>A (p.Ala2142Thr)	rs370942881	0.00014
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)	rs373922545	0.00014
NM_201384.3(PLEC):c.8727C>T (p.Thr2909=)	rs370129235	0.00014
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)	rs201163149	0.00011
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)	rs576688705	0.00011
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)	rs537994918	0.00010
NM_201384.3(PLEC):c.12390G>A (p.Thr4130=)	rs200575172	0.00010
NM_201384.3(PLEC):c.4956G>A (p.Ala1652=)	rs367910889	0.00010
NM_201384.3(PLEC):c.6084G>A (p.Ala2028=)	rs528306324	0.00010
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)	rs372840016	0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)	rs781878105	0.00009
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)	rs201460864	0.00009
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)	rs369370495	0.00008
NM_201384.3(PLEC):c.5037G>A (p.Ala1679=)	rs782627006	0.00007
NM_201384.3(PLEC):c.2643G>A (p.Thr881=)	rs369973592	0.00006
NM_201378.4(PLEC):c.71-12006C>T	rs782759589	0.00005
NM_201384.3(PLEC):c.10446C>T (p.Arg3482=)	rs527572451	0.00005
NM_201384.3(PLEC):c.6918C>T (p.Ala2306=)	rs782163766	0.00005
NM_201384.3(PLEC):c.10368T>A (p.Val3456=)	rs538384389	0.00004
NM_201384.3(PLEC):c.13002C>T (p.Asp4334=)	rs782300050	0.00004
NM_201384.3(PLEC):c.2435T>C (p.Val812Ala)	rs557539356	0.00004
NM_201384.3(PLEC):c.2580G>A (p.Pro860=)	rs782468518	0.00004
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)	rs782757364	0.00004
NM_201384.3(PLEC):c.2550C>G (p.Ala850=)	rs376777606	0.00003
NM_201384.3(PLEC):c.3501C>T (p.His1167=)	rs782038506	0.00003
NM_201384.3(PLEC):c.12030C>T (p.Ala4010=)	rs372023641	0.00002
NM_201384.3(PLEC):c.2547C>T (p.Ala849=)	rs770364460	0.00002
NM_201384.3(PLEC):c.3141C>T (p.Ala1047=)	rs782511217	0.00002
NM_201384.3(PLEC):c.4944G>A (p.Ala1648=)	rs782665485	0.00002
NM_201384.3(PLEC):c.6546G>A (p.Ala2182=)	rs372009035	0.00002
NM_201384.3(PLEC):c.1434C>T (p.His478=)	rs782751690	0.00001
NM_201384.3(PLEC):c.2612+10G>A	rs539801615	0.00001
NM_201384.3(PLEC):c.7161G>A (p.Leu2387=)	rs781982762	0.00001
NM_201378.4(PLEC):c.71-11706C>T	rs781796596
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)	rs185022156
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)	rs886044784
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)	rs200814155

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