ClinVar Miner

Variants in gene SACS with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
544 52 3 42 35 0 6 75

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 14 1 0 0
likely pathogenic 14 0 5 0 1
uncertain significance 1 5 0 29 15
likely benign 0 0 29 0 28
benign 0 1 15 28 0

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_014363.4(SACS):c.1607C>T (p.Pro536Leu) rs1440541889
NM_014363.4(SACS):c.4877_4880delGCTG (p.Gly1626Valfs) rs757872635
NM_014363.4(SACS):c.623G>T (p.Ser208Ile) rs911764681
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.4(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
NM_014363.5(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.5(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.5(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.5(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.5(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.5(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.5(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.5(SACS):c.10906C>T (p.Arg3636Ter) rs780247476
NM_014363.5(SACS):c.10907G>A (p.Arg3636Gln) rs281865119
NM_014363.5(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.5(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.5(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.5(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.5(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.5(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.5(SACS):c.12304T>C (p.Leu4102=) rs2737699
NM_014363.5(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.5(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.5(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.5(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.5(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.5(SACS):c.171+13C>T rs374672041
NM_014363.5(SACS):c.171+6C>T rs3751368
NM_014363.5(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.5(SACS):c.1917A>G (p.Ala639=) rs138457742
NM_014363.5(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.5(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.5(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.5(SACS):c.2643G>C (p.Glu881Asp) rs200517685
NM_014363.5(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.5(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.5(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.5(SACS):c.3144A>G (p.Val1048=) rs3751369
NM_014363.5(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.5(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.5(SACS):c.4117_4118delGCinsCT (p.Ala1373Leu) rs797045938
NM_014363.5(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.5(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.5(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.5(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.5(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.5(SACS):c.5065_5066del (p.Ser1689Cysfs) rs1372213267
NM_014363.5(SACS):c.5629C>T (p.Arg1877Ter) rs761089024
NM_014363.5(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.5(SACS):c.6240T>C (p.Val2080=) rs550680855
NM_014363.5(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.5(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.5(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014363.5(SACS):c.7139delA (p.Asn2380Ilefs) rs1057516689
NM_014363.5(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.5(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014363.5(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.5(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.5(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.5(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.5(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.5(SACS):c.8344_8345delGCinsAT (p.Ala2782Ile) rs386768924
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.5(SACS):c.8542_8543delTT (p.Phe2848Profs) rs876657721
NM_014363.5(SACS):c.8577C>T (p.His2859=) rs140016265
NM_014363.5(SACS):c.8793delA (p.Lys2931Asnfs) rs767871841
NM_014363.5(SACS):c.8844delT (p.Ile2949Phefs) rs281865117
NM_014363.5(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.5(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.5(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.5(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014363.6(SACS):c.-13A>G rs17078720
NM_014363.6(SACS):c.10822_10823del (p.Ser3608Cysfs) rs1555250082

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