All variants in the SF3B4 gene

Information The variants shown are described using the NM_005850.4 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.-3662G>A r.(?) p.(=) - likely benign g.149903313C>T g.149931421C>T MTMR11(NM_001145862.1):c.1129G>A (p.(Gly377Ser)) - MTMR11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.149899651T>C g.149927759T>C p.Met1? - SF3B4_000001 - PubMed: Bernier 2012 - - De novo - - BceAI+;NcoI- - - Johan den Dunnen
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.149899651T>C g.149927759T>C p.Met1? - SF3B4_000001 - PubMed: Bernier 2012 - - Germline - - BceAI+;NcoI- - - Johan den Dunnen
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.149899651T>C g.149927759T>C p.Met1? - SF3B4_000001 - PubMed: Bernier 2012 - - Germline - - BceAI+;NcoI- - - Johan den Dunnen
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.149899651T>C g.149927759T>C p.Met1? - SF3B4_000001 - PubMed: Bernier 2012 - - Germline - - BceAI+;NcoI- - - Johan den Dunnen
+?/. 1 c.1A>G r.(?) p.0? - likely pathogenic g.149899651T>C g.149927759T>C p.Met1? - SF3B4_000001 - PubMed: Bernier 2012 - - Germline - - BceAI+;NcoI- - - Johan den Dunnen
+?/. 2 c.88del r.(?) p.(Trp30Glyfs*10) - likely pathogenic g.149899133del g.149927241del 88delT - SF3B4_000002 - PubMed: Bernier 2012 - - Germline - - BslI+ - - Johan den Dunnen
+?/. - c.164-1G>A r.spl? p.? - likely pathogenic g.149898811C>T g.149926919C>T - - SF3B4_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044869 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 3 c.311T>C r.(?) p.(Ile104Thr) ACMG likely pathogenic g.149898663A>G g.149926771A>G - - SF3B4_000021 - - - - Germline no - - - - Miikka Vikkula
+/. 3 c.417C>T r.[=, 416_537del, 416_540del] p.[=, p.Gly139Glufs*6, p.Asn140Leufs*4] - pathogenic g.149898557G>A g.149926665G>A - - SF3B4_000019 The deleterious effect of the synonymous variant on splcing was proven by a hybrid minigene assay on HEK293 cells - - - Germline yes - - - - Eva Trevisson
+/. - c.417C>T r.spl p.(Asp140LeufsTer3) - pathogenic (dominant) g.149898557G>A g.149926665G>A - - SF3B4_000019 ACMG PVS1, PS2_M, PS3, PS4_S, PM2_S; variant associated with acrofacial dysostosis 1, Nager type PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. 3 c.452C>A r.(?) p.(Ser151*) - likely pathogenic g.149898522G>T g.149926630G>T - - SF3B4_000003 - PubMed: Bernier 2012 - - Germline - - MseI+ - - Johan den Dunnen
?/. - c.574G>A r.(?) p.(Glu192Lys) - VUS g.149898400C>T g.149926508C>T SF3B4(NM_005850.5):c.574G>A (p.E192K) - MTMR11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.610del r.(?) p.(Ala204Leufs*116) - pathogenic g.149898365del - - - MTMR11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 3 c.625C>T r.(?) p.(Gln209*) - likely pathogenic g.149898349G>A g.149926457G>A - - SF3B4_000004 - PubMed: Bernier 2012 - - Germline - - PvuII- - - Johan den Dunnen
+?/. 3 c.661_664dup r.(?) p.(Asn222Thrfs*265) - likely pathogenic g.149898310_149898313dup g.149926418_149926421dup 661_664dupCCCA - SF3B4_000005 - PubMed: Bernier 2012 - - Germline - - - - - Johan den Dunnen
-/. - c.682T>C r.(?) p.(=) - benign g.149898292A>G - SF3B4(NM_005850.5):c.682T>C (p.(Leu228=)) - MTMR11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.707-8C>T r.(=) p.(=) - likely benign g.149897942G>A - SF3B4(NM_005850.4):c.707-8C>T (p.?) - MTMR11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.735C>T r.(?) p.(=) - likely benign g.149897906G>A - SF3B4(NM_005850.5):c.735C>T (p.P245=) - MTMR11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 4 c.769del r.(?) p.(Ile257Tyrfs*63) - likely pathogenic g.149897872del g.149925980del 769delA - SF3B4_000006 - PubMed: Bernier 2012 - - Germline - - BanI+;BciVI- - - Johan den Dunnen
+?/. 4 c.796dup r.(?) p.(Met266Asnfs*220) - likely pathogenic g.149897845dup g.149925953dup 796dupA - SF3B4_000007 - PubMed: Bernier 2012 - - Germline - - - - - Johan den Dunnen
+?/. 4 c.827dup r.(?) p.(Ser277Ilefs*209) - likely pathogenic g.149897819dup g.149925927dup 827dupC - SF3B4_000008 - PubMed: Bernier 2012 - - Germline - - - - - Johan den Dunnen
+?/. 4 c.836_837insGGGTATG r.(?) p.(Thr280Glyfs*208) - likely pathogenic g.149897805_149897806insATACCCC g.149925913_149925914insATACCCC - - SF3B4_000009 - PubMed: Bernier 2012 - - De novo - - NlaIV- - - Johan den Dunnen
+?/. 4 c.864del r.(?) p.(His288Glnfs*32) - likely pathogenic g.149897777del g.149925885del 864delT - SF3B4_000010 - PubMed: Bernier 2012 - - De novo - - Hpy188III+FatI- - - Johan den Dunnen
?/. - c.904C>T r.(?) p.(Pro302Ser) - VUS g.149897737G>A - SF3B4(NM_005850.4):c.904C>T (p.(Pro302Ser)) - MTMR11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 4i c.913+1G>A r.(?) p.(=) - likely pathogenic g.149897727C>T g.149925835C>T - - SF3B4_000011 - PubMed: Bernier 2012 - - Germline - - Hpy188III+BslI- - - Johan den Dunnen
?/. - c.913+5G>T r.spl? p.? - VUS g.149897723C>A - SF3B4(NM_005850.4):c.913+5G>T (p.?) - MTMR11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.914-5C>G r.spl? p.? - likely benign g.149895911G>C g.149924019G>C SF3B4(NM_005850.4):c.914-5C>G (p.?) - MTMR11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.914-1G>C r.spl? p.? - likely pathogenic g.149895907C>G g.149924015C>G - - MTMR11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.956dup r.(?) p.(Leu319Phefs*167) - pathogenic g.149895865dup - SF3B4(NM_005850.4):c.956dupT (p.L319Ffs*167) - MTMR11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.970G>A r.(?) p.(Ala324Thr) - likely benign g.149895850C>T - SF3B4(NM_005850.4):c.970G>A (p.(Ala324Thr)) - MTMR11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1001C>T r.(?) p.(Pro334Leu) - likely benign g.149895819G>A g.149923927G>A SF3B4(NM_005850.4):c.1001C>T (p.(Pro334Leu)) - MTMR11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 5 c.1060dup r.(?) p.(Arg354Profs*132) - likely pathogenic g.149895766dup g.149923874dup 1060dupC - SF3B4_000012 - PubMed: Bernier 2012 - - De novo - - - - - Johan den Dunnen
?/. - c.1082C>A r.(?) p.(Pro361His) - VUS g.149895738G>T - SF3B4(NM_005850.5):c.1082C>A (p.P361H) - MTMR11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1087+5G>A r.spl? p.? - VUS g.149895728C>T - SF3B4(NM_005850.4):c.1087+5G>A (p.?) - MTMR11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 6 c.1147del r.(?) p.(His383Metfs*75) - likely pathogenic g.149895568del g.149923676del 1147delC - SF3B4_000013 - PubMed: Bernier 2012 - - De novo - - BslI- - - Johan den Dunnen
+?/. 6 c.1147dup r.(?) p.(His383Profs*103) - likely pathogenic g.149895568dup g.149923676dup 1147dupC - SF3B4_000014 - PubMed: Bernier 2012 - - Germline - - - - - Johan den Dunnen
+?/. 6 c.1147dup r.(?) p.(His383Profs*103) - likely pathogenic g.149895568dup g.149923676dup 1147dupC - SF3B4_000014 - PubMed: Bernier 2012 - - Germline - - - - - Johan den Dunnen
+?/. 6 c.1148dup r.(?) p.(His383Glnfs*103) - likely pathogenic g.149895561dup g.149923669dup 1148dupA - SF3B4_000015 - PubMed: Bernier 2012 - - Germline - - BtgI- - - Johan den Dunnen
+?/. 6 c.1199del r.(?) p.(Pro400Leufs*58) - likely pathogenic g.149895511del g.149923619del 1199delC - SF3B4_000016 - PubMed: Bernier 2012 - - Germline - - BanII+;MnlI- - - Johan den Dunnen
+?/. 6 c.1199del r.(?) p.(Pro400Leufs*58) - likely pathogenic g.149895511del g.149923619del 1199delC - SF3B4_000016 - PubMed: Bernier 2012 - - Germline - - BanII+;MnlI- - - Johan den Dunnen
+?/. 6 c.1199del r.(?) p.(Pro400Leufs*58) - likely pathogenic g.149895511del g.149923619del 1199delC - SF3B4_000016 - PubMed: Bernier 2012 - - Germline - - BanII+;MnlI- - - Johan den Dunnen
+?/. 6 c.1232del r.(?) p.(Pro411Glnfs*47) - likely pathogenic g.149895478del g.149923586del 1232delC - SF3B4_000017 - PubMed: Bernier 2012 - - Germline - - HpyCH4III+BsrI- - - Johan den Dunnen
+?/. 6 c.1252_1258del r.(?) p.(Leu418Alafs*38) - likely pathogenic g.149895451_149895457del g.149923559_149923565del 1252_1258delCTTCGAG - SF3B4_000018 - - - - Germline - - BseYI+;MnlI- - - Johan den Dunnen
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