Unique variants in the ACSL4 gene

Information The variants shown are described using the NM_022977.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 11 c.? r.? p.? - VUS g.? - c.1181A>G (Asn394Ser) - USP9X_000005 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.190C>T r.(?) p.(His64Tyr) - VUS g.108926526G>A g.109683297G>A - - ACSL4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.213A>G r.(?) p.(Ile71Met) - likely benign g.108926503T>C g.109683274T>C ACSL4(NM_004458.2):c.90A>G (p.(Ile30Met)) - ACSL4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.484G>T r.(?) p.(Glu162Ter) - pathogenic g.108925993C>A g.109682764C>A - - ACSL4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.526C>G r.(?) p.(Pro176Ala) - VUS g.108925951G>C g.109682722G>C ACSL4(NM_022977.2):c.526C>G (p.P176A) - ACSL4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.581A>G r.(?) p.(Asn194Ser) - benign g.108924553T>C g.109681324T>C ACSL4(NM_022977.2):c.581A>G (p.N194S) - ACSL4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.613G>A r.(?) p.(Val205Ile) - likely benign g.108924521C>T - ACSL4(NM_022977.2):c.613G>A (p.V205I) - ACSL4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.639+8T>G r.(=) p.(=) - likely benign g.108924487A>C g.109681258A>C ACSL4(NM_022977.2):c.639+8T>G - ACSL4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.674T>A r.(?) p.(Ile225Asn) - VUS g.108924331A>T g.109681102A>T ACSL4(NM_022977.2):c.674T>A (p.I225N) - ACSL4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. 1 7i c.779-342G>T r.(=) p.(=) - VUS g.108921986C>A g.109678757C>A - - ACSL4_000005 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.819C>T r.(?) p.(Ala273=) - likely benign g.108921604G>A - ACSL4(NM_022977.2):c.819C>T (p.A273=) - ACSL4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.929+3A>G r.spl? p.? - benign, likely benign g.108921491T>C g.109678262T>C ACSL4(NM_004458.2):c.806+3A>G (p.?), ACSL4(NM_022977.2):c.929+3A>G - ACSL4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.932C>T r.(?) p.(Pro311Leu) - likely benign g.108921338G>A g.109678109G>A ACSL4(NM_022977.2):c.932C>T (p.P311L) - ACSL4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.939C>G r.(?) p.(Asp313Glu) - VUS g.108921331G>C g.109678102G>C - - ACSL4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 2 9i c.1054-71T>C r.(=) p.(=) - VUS g.108917773A>G g.109674544A>G - - ACSL4_000004 - - - - Germline - - - - - Yu Sun
./. 2 9i c.1054-55A>G r.(=) p.(=) - VUS g.108917757T>C g.109674528T>C - - ACSL4_000002 - - - - Germline - - - - - Yu Sun
./. 1 - c.1124C>T r.(?) p.(Pro375Leu) - pathogenic g.108917632G>A g.109674403G>A ACSL4 P375L - ACSL4_000026 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.1135G>A r.(?) p.(Asp379Asn) - VUS g.108912393C>T g.109669164C>T - - ACSL4_000023 variant not linked to phenotype PubMed: Ito 2018, Journal: Ito 2018 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.1145A>G r.(?) p.(Tyr382Cys) - likely benign, VUS g.108912383T>C g.109669154T>C ACSL4(NM_022977.2):c.1145A>G (p.Y382C) - ACSL4_000027 VKGL data sharing initiative Nederland PubMed: Morimoto 2018, Journal: Morimoto 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.1214A>T r.(?) p.(Asp405Val) - VUS g.108912314T>A g.109669085T>A ACSL4(NM_022977.2):c.1214A>T (p.D405V) - ACSL4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1303A>G r.(?) p.(Asn435Asp) - likely benign g.108911465T>C g.109668236T>C ACSL4(NM_022977.2):c.1303A>G (p.N435D) - ACSL4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1382C>T r.(?) p.(Pro461Leu) - VUS g.108911386G>A g.109668157G>A - - ACSL4_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. 1 - c.1384A>G r.(?) p.(Ile462Val) - benign g.108911384T>C g.109668155T>C ACSL4(NM_004458.2):c.1261A>G (p.(Ile421Val)) - ACSL4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 12i c.1439-195_*1127737del r.? p.? - pathogenic g.107759521_108908918del - COL4A5 IVS2_ACSL4 IVS12 del - COL4A5_000981 fusion transcript COL4A5_ACSL4 PubMed: Rodriguez 2010, PubMed: Meloni 2002, PubMed: Piccini 1998 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.1448A>G r.(?) p.(Tyr483Cys) - benign, likely benign g.108908714T>C g.109665485T>C ACSL4(NM_004458.2):c.1325A>G (p.(Tyr442Cys)), ACSL4(NM_022977.2):c.1448A>G (p.Y483C) - ACSL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1514-7T>C r.(=) p.(=) - VUS g.108906638A>G g.109663409A>G ACSL4(NM_004458.2):c.1391-7T>C (p.(=)) - ACSL4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1582A>G r.(?) p.(Met528Val) - VUS g.108906563T>C g.109663334T>C ACSL4(NM_022977.2):c.1582A>G (p.M528V) - ACSL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1599T>C r.(?) p.(Asn533=) - likely benign g.108906546A>G g.109663317A>G ACSL4(NM_022977.2):c.1599T>C (p.N533=) - ACSL4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1613C>T r.(?) p.(Ala538Val) - VUS g.108906532G>A - - - ACSL4_000037 - - - - Germline - - - - - Alejandro Brea-Fernández
+/. 1 - c.1705+1G>A r.spl? p.? - pathogenic g.108906439C>T g.109663210C>T - - ACSL4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1731A>G r.(?) p.(Leu577=) - likely benign g.108904849T>C g.109661620T>C ACSL4(NM_022977.2):c.1731A>G (p.L577=) - ACSL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1749A>G r.(?) p.(Val583=) - likely benign g.108904831T>C g.109661602T>C ACSL4(NM_022977.2):c.1749A>G (p.V583=) - ACSL4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 15i c.1820+31G>A r.(=) p.(=) - VUS g.108904729C>T g.109661500C>T - - ACSL4_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1894G>A r.(?) p.(Val632Ile) - likely benign g.108902667C>T g.109659438C>T ACSL4(NM_022977.2):c.1894G>A (p.V632I) - ACSL4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ./. 2 - c.1960C>T r.(?) p.(Arg654*) - likely pathogenic, pathogenic g.108902601G>A g.109659372G>A ACSL4 R654* - ACSL4_000025 - PubMed: Grozeva 2015, Journal: Grozeva 2015, PubMed: Hu 2016 - - Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen
-?/. 1 - c.1979-9T>C r.(=) p.(=) - likely benign g.108887424A>G g.109644195A>G ACSL4(NM_022977.2):c.1979-9T>C - ACSL4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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