All variants in the SLC25A46 gene

Information The variants shown are described using the NM_138773.1 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

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     
?/. - c.-871T>C r.(?) p.(=) - VUS g.110073950T>C g.110738249T>C SLC25A46(NM_001303250.2):c.10+2T>C, SLC25A46(NM_001303250.3):c.10+2T>C - SLC25A46_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-871T>C r.(?) p.(=) - VUS g.110073950T>C - SLC25A46(NM_001303250.2):c.10+2T>C, SLC25A46(NM_001303250.3):c.10+2T>C - SLC25A46_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3G>A r.(?) p.(Met1?) - likely pathogenic g.110074823G>A g.110739122G>A SLC25A46(NM_138773.3):c.3G>A (p.M1?) - SLC25A46_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.84C>T r.(?) p.(Phe28=) - likely benign g.110074904C>T - SLC25A46(NM_138773.4):c.84C>T (p.F28=) - SLC25A46_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.147C>T r.(?) p.(Ile49=) - benign g.110074967C>T g.110739266C>T SLC25A46(NM_138773.4):c.147C>T (p.I49=) - SLC25A46_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.235G>A r.(?) p.(Glu79Lys) - VUS g.110075055G>A g.110739354G>A SLC25A46(NM_138773.3):c.235G>A (p.E79K), SLC25A46(NM_138773.4):c.235G>A (p.E79K) - SLC25A46_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.235G>A r.(?) p.(Glu79Lys) - likely benign g.110075055G>A g.110739354G>A SLC25A46(NM_138773.3):c.235G>A (p.E79K), SLC25A46(NM_138773.4):c.235G>A (p.E79K) - SLC25A46_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.239C>T r.(?) p.(Pro80Leu) - VUS g.110075059C>T g.110739358C>T SLC25A46(NM_138773.4):c.239C>T (p.P80L) - SLC25A46_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.311G>A r.(?) p.(Gly104Asp) - VUS g.110077775G>A g.110742074G>A - - SLC25A46_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.311G>A r.(?) p.(Gly104Asp) - likely pathogenic (recessive) g.110077775G>A g.110742074G>A - - SLC25A46_000007 - PubMed: Ababneh 2021 - rs763355366 Germline - - - - - Johan den Dunnen
-?/. - c.326+13C>T r.(=) p.(=) - likely benign g.110077803C>T g.110742102C>T SLC25A46(NM_138773.4):c.326+13C>T - SLC25A46_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.326+15A>G r.(=) p.(=) - likely benign g.110077805A>G - SLC25A46(NM_138773.4):c.326+15A>G - SLC25A46_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2i c.327-2A>T r.spl p.? ACMG likely pathogenic (recessive) g.110079429A>T g.110743728A>T c.[327-2A>T];[410A>G] - SLC25A46_000032 - Reynier P et al. (under submission) - - Germline/De novo (untested) ? - - - - Marc Ferre
-/. - c.346= r.(=) p.(Leu116=) - benign g.110079450T>C g.110743749T>C SLC25A46(NM_138773.4):c.346T>C (p.L116=) - SLC25A46_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.355C>A r.(?) p.(Pro119Thr) - likely pathogenic g.110079459C>A g.110743758C>A - - SLC25A46_000035 ACMG PS4, PM2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - Johan den Dunnen
?/. - c.371G>A r.(?) p.(Arg124His) - VUS g.110079475G>A g.110743774G>A SLC25A46(NM_138773.3):c.371G>A (p.R124H) - SLC25A46_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.378A>G r.(?) p.(Gln126=) - benign g.110079482A>G g.110743781A>G SLC25A46(NM_138773.4):c.378A>G (p.Q126=) - SLC25A46_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.384+12T>G r.(=) p.(=) - benign g.110079500T>G g.110743799T>G SLC25A46(NM_138773.4):c.384+12T>G - SLC25A46_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.385-852_385-739del r.(=) p.(=) - likely pathogenic (recessive) g.110081118_110081231del g.110745417_110745530del - - SLC25A46_000019 Intron retention and pseudo exon creation PubMed: Lee 2019 ClinVar-000930569.1 - Germline - - - - - Johan den Dunnen
-?/. - c.385-4A>G r.spl? p.? - likely benign g.110081966A>G - SLC25A46(NM_138773.3):c.385-4A>G - SLC25A46_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 4 c.410A>G r.(?) p.(His137Arg) ACMG VUS (!) g.110081995A>G g.110746294A>G c.[327-2A>T];[410A>G] - SLC25A46_000033 - Reynier P et al. (under submission) - rs754427464 Germline/De novo (untested) ? - - - - Marc Ferre
?/. - c.410A>G r.(?) p.(His137Arg) - VUS g.110081995A>G - - - SLC25A46_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.416C>A r.(?) p.(Thr139Asn) - VUS g.110082001C>A g.110746300C>A SLC25A46(NM_138773.3):c.416C>A (p.T139N), SLC25A46(NM_138773.4):c.416C>A (p.T139N) - SLC25A46_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.416C>A r.(?) p.(Thr139Asn) - VUS g.110082001C>A g.110746300C>A SLC25A46(NM_138773.3):c.416C>A (p.T139N), SLC25A46(NM_138773.4):c.416C>A (p.T139N) - SLC25A46_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.429C>T r.(?) p.(Val143=) - benign g.110082014C>T g.110746313C>T SLC25A46(NM_138773.4):c.429C>T (p.V143=) - SLC25A46_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.463-14T>G r.(=) p.(=) - likely benign g.110083850T>G - SLC25A46(NM_138773.4):c.463-14T>G - SLC25A46_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.560C>T r.(?) p.(Pro187Leu) - likely pathogenic g.110083961C>T g.110748260C>T - - SLC25A46_000036 ACMG PS4, PM2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - Johan den Dunnen
+?/. - c.560C>T r.(?) p.(Pro187Leu) - likely pathogenic g.110083961C>T g.110748260C>T - - SLC25A46_000036 ACMG PS4, PM2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - Johan den Dunnen
-/. - c.563+6A>T r.(=) p.(=) - benign g.110083970A>T - SLC25A46(NM_138773.4):c.563+6A>T - SLC25A46_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.563+19C>T r.(=) p.(=) - benign g.110083983C>T - SLC25A46(NM_138773.4):c.563+19C>T - SLC25A46_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.631G>A r.(?) p.(Val211Met) - likely benign g.110092412G>A g.110756712G>A SLC25A46(NM_138773.3):c.631G>A (p.V211M), SLC25A46(NM_138773.4):c.631G>A (p.V211M) - SLC25A46_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.631G>A r.(?) p.(Val211Met) - likely benign g.110092412G>A - SLC25A46(NM_138773.3):c.631G>A (p.V211M), SLC25A46(NM_138773.4):c.631G>A (p.V211M) - SLC25A46_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.659G>T r.(?) p.(Ser220Ile) - likely pathogenic g.110092440G>T g.110756740G>T - - SLC25A46_000037 ACMG PS4, PM2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - Johan den Dunnen
-/. - c.714G>A r.(?) p.(Glu238=) - benign g.110096939G>A g.110761239G>A SLC25A46(NM_138773.4):c.714G>A (p.E238=) - SLC25A46_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.746G>A r.(?) p.(Gly249Asp) ACMG VUS g.110096971G>A g.110761271G>A SLC25A46 c.746G>A, p.(Gly249Asp) - SLC25A46_000031 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.746G>A r.(?) p.(Gly249Asp) - pathogenic g.110096971G>A - - - SLC25A46_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.767A>G r.(?) p.(Lys256Arg) - likely benign g.110096992A>G g.110761292A>G SLC25A46(NM_138773.3):c.767A>G (p.K256R), SLC25A46(NM_138773.4):c.767A>G (p.K256R) - SLC25A46_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.767A>G r.(?) p.(Lys256Arg) - VUS g.110096992A>G g.110761292A>G SLC25A46(NM_138773.3):c.767A>G (p.K256R), SLC25A46(NM_138773.4):c.767A>G (p.K256R) - SLC25A46_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.769C>T r.(?) p.(Arg257*) - likely pathogenic g.110096994C>T - - - SLC25A46_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.938_940dup r.(?) p.(Tyr313dup) - VUS g.110097163_110097165dup - SLC25A46(NM_138773.4):c.938_940dupATT (p.Y313dup) - SLC25A46_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.992T>C r.992u>c p.(Leu331Pro) - likely pathogenic (recessive) g.110097217T>C g.110761517T>C - - SLC25A46_000020 - PubMed: Lee 2019 ClinVar-000930570.1 - Germline - - - - - Johan den Dunnen
?/. - c.1036A>G r.(?) p.(Thr346Ala) - VUS g.110097261A>G - SLC25A46(NM_138773.4):c.1036A>G (p.T346A) - SLC25A46_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1039C>T r.(?) p.(Arg347Cys) - VUS g.110097264C>T g.110761564C>T SLC25A46(NM_138773.3):c.1039C>T (p.R347C) - SLC25A46_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1125C>G r.(?) p.(Thr375=) - likely benign g.110097350C>G - SLC25A46(NM_138773.4):c.1125C>G (p.T375=) - SLC25A46_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1137G>T r.(?) p.(Glu379Asp) - benign g.110097362G>T g.110761662G>T SLC25A46(NM_138773.4):c.1137G>T (p.E379D) - SLC25A46_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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