All variants in the TFE3 gene

Information The variants shown are described using the NM_006521.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-148A>C r.(?) p.(=) - VUS g.48900900T>G g.49043374= - - TFE3_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.26G>C r.(?) p.(Arg9Pro) - likely benign g.48900727C>G g.49043201C>G TFE3(NM_006521.5):c.26G>C (p.R9P, p.(Arg9Pro)) - TFE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.26G>C r.(?) p.(Arg9Pro) - benign g.48900727C>G g.49043201C>G TFE3(NM_006521.5):c.26G>C (p.R9P, p.(Arg9Pro)) - TFE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.117-88G>C r.(=) p.(=) - VUS g.48898183C>G g.49040656= - - TFE3_000002 - - - - Germline - - - - - Yu Sun
?/. - c.117-88G>C r.(=) p.(=) - VUS g.48898183C>G g.49040656= - - TFE3_000002 - - - - Germline - - - - - Yu Sun
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 0.88 mosaic PubMed: Lehalle 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 - PubMed: Diaz 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic g.48896816C>T - TFE3(NM_006521.5):c.350G>A (p.R117Q), TFE3(NM_006521.6):c.350G>A (p.R117Q) - TFE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic g.48896816C>T - TFE3(NM_006521.5):c.350G>A (p.R117Q), TFE3(NM_006521.6):c.350G>A (p.R117Q) - TFE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.356A>C r.(?) p.(Gln119Pro) - pathogenic (dominant) g.48896810T>G g.49039285T>G - - TFE3_000032 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.375G>C r.(?) p.(Ala125=) - likely benign g.48896791C>G g.49039266C>G TFE3(NM_006521.5):c.375G>C (p.A125=) - TFE3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.415G>A r.(?) p.(Ala139Thr) - likely benign g.48896751C>T g.49039226C>T TFE3(NM_006521.5):c.415G>A (p.A139T) - TFE3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.416C>T r.(?) p.(Ala139Val) - VUS g.48896750G>A g.49039225G>A A139V - TFE3_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.468C>T r.(?) p.(Gly156=) - likely benign g.48896698G>A - TFE3(NM_006521.5):c.468C>T (p.G156=) - TFE3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.551A>G r.(?) p.(Glu184Gly) - pathogenic (dominant) g.48895951T>C g.49038426T>C - - TFE3_000031 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.557C>T r.(?) p.(Pro186Leu) - pathogenic (dominant) g.48895945G>A g.49038420G>A - - TFE3_000030 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.559A>C r.(?) p.(Thr187Pro) - pathogenic (dominant) g.48895943T>G g.49038418T>G - - TFE3_000029 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.560C>A r.(?) p.(Thr187Lys) - pathogenic (dominant) g.48895942G>T g.49038417G>T - - TFE3_000028 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.560C>G r.(?) p.(Thr187Arg) - pathogenic (dominant) g.48895942G>C g.49038417G>C - - TFE3_000010 0.65 mosaic PubMed: Villegas 2019, PubMed: Lehalle 2020 - - Somatic - - - 0 - Johan den Dunnen
+?/. - c.560C>G r.(?) p.(Thr187Arg) - likely pathogenic g.48895942G>C - TFE3(NM_006521.5):c.560C>G (p.T187R) - TFE3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.560C>T r.(?) p.(Thr187Met) - pathogenic (dominant) g.48895942G>A g.49038417G>A - - TFE3_000027 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.560C>T r.(?) p.(Thr187Met) - pathogenic (dominant) g.48895942G>A g.49038417G>A - - TFE3_000027 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.560C>T r.(?) p.(Thr187Met) - pathogenic (dominant) g.48895942G>A g.49038417G>A - - TFE3_000027 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.566A>G r.(?) p.(Tyr189Cys) - pathogenic (dominant) g.48895936T>C g.49038411T>C - - TFE3_000026 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.570C>G r.(?) p.(His190Gln) - pathogenic (dominant) g.48895932G>C g.49038407G>C - - TFE3_000025 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.572T>C r.(?) p.(Leu191Pro) - pathogenic (dominant) g.48895930A>G g.49038405A>G - - TFE3_000024 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.572T>C r.(?) p.(Leu191Pro) - pathogenic (dominant) g.48895930A>G g.49038405A>G - - TFE3_000024 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.602A>C r.(?) p.(Gln201Pro) - pathogenic (dominant) g.48895900T>G g.49038375T>G - - TFE3_000023 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.667G>A r.(?) p.(Ala223Thr) - likely benign g.48895835C>T g.49038310C>T TFE3(NM_006521.5):c.667G>A (p.A223T) - TFE3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.780+1G>A r.spl p.? - pathogenic (dominant) g.48895721C>T g.49038196C>T - - TFE3_000022 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.780+1G>A r.spl p.? - pathogenic (dominant) g.48895721C>T g.49038196C>T - - TFE3_000022 - PubMed: Diaz 2020 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.1089C>T r.(?) p.(Asn363=) - likely benign g.48891027G>A g.49033512G>A TFE3(NM_006521.5):c.1089C>T (p.N363=) - TFE3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1323A>G r.(?) p.(Val441=) - benign g.48888074T>C g.49030563T>C TFE3(NM_006521.6):c.1323A>G (p.V441=) - TFE3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1323A>G r.(=) p.(=) - VUS g.48888074T>C g.49030563T>C V441V - TFE3_000008 recurrent, found 64 times; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 64/208 cases - 0 - Lucy Raymond
-?/. - c.1408G>A r.(?) p.(Gly470Ser) - likely benign g.48887989C>T g.49030478C>T TFE3(NM_006521.5):c.1408G>A (p.G470S) - TFE3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1439G>A r.(?) p.(Gly480Glu) - likely benign g.48887958C>T g.49030447C>T TFE3(NM_006521.5):c.1439G>A (p.G480E) - TFE3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1439G>C r.(?) p.(Gly480Ala) - benign g.48887958C>G g.49030447C>G TFE3(NM_006521.5):c.1439G>C (p.G480A) - TFE3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1450G>A r.(?) p.(Ala484Thr) - VUS g.48887947C>T g.49030436C>T TFE3(NM_006521.5):c.1450G>A (p.(Ala484Thr)) - TFE3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1451C>T r.(?) p.(Ala484Val) - likely benign g.48887946G>A g.49030435G>A TFE3(NM_006521.5):c.1451C>T (p.A484V) - TFE3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1484C>T r.(?) p.(Pro495Leu) - likely benign g.48887913G>A g.49030402G>A TFE3(NM_006521.5):c.1484C>T (p.P495L) - TFE3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1522G>A r.(?) p.(Asp508Asn) - VUS g.48887875C>T - TFE3(NM_006521.6):c.1522G>A (p.D508N) - TFE3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1592G>A r.(?) p.(Gly531Glu) - likely benign g.48887805C>T g.49030294C>T TFE3(NM_006521.5):c.1592G>A (p.G531E) - TFE3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1610C>T r.(?) p.(Ser537Leu) - likely benign g.48887787G>A g.49030276G>A TFE3(NM_006521.5):c.1610C>T (p.(Ser537Leu)) - TFE3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1629A>G r.(?) p.(Pro543=) - likely benign g.48887768T>C g.49030257T>C TFE3(NM_006521.5):c.1629A>G (p.P543=) - TFE3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1673C>T r.(?) p.(Ala558Val) - likely benign g.48887724G>A - TFE3(NM_006521.5):c.1673C>T (p.A558V) - TFE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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