Unique variants in the SMARCE1 gene

Information The variants shown are described using the NM_003079.4 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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 - c.-45-8del r.(=) p.(=) - benign g.38802116del g.40645864del SMARCE1(NM_003079.4):c.-45-8delT - SMARCE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.-45-7A>T r.(=) p.(=) - likely benign g.38802106T>A g.40645854T>A SMARCE1(NM_003079.4):c.-45-7A>T - SMARCE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 _1_11_ c.(?_-1)_(*1_?)del r.0? p.0? - pathogenic g.(?_38785036)_(38802055_?)del - - - SMARCE1_000006 - - - - Germline - - - - - Beatrice Parfait
-?/. 1 - c.132C>G r.(?) p.(Asn44Lys) - likely benign g.38798731G>C g.40642479G>C - - SMARCE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 4 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.? - VUS g.(3879235_38792646)_(38793825_38798706)del - Deletion of the promoter region of Exon 5 and Exon 6, not specified - SMARCE1_000019 - PubMed: Smith MJ 2014 - - Germline, Unknown - - - - - Julia Lopez
?/. 1 - c.206C>T r.(?) p.(Pro69Leu) - VUS g.38793775G>A g.40637523G>A - - SMARCE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 5 c.218A>C r.(?) p.(Tyr73Ser) - pathogenic g.38793763T>G g.40637511T>G - - SMARCE1_000002 - PubMed: Wieczorek 2013 - - De novo yes - - - - Eline van der Sluijs
+/., ?/. 2 5 c.218A>G r.(?) p.(Tyr73Cys) - pathogenic, VUS g.38793763T>C g.40637511T>C - - SMARCE1_000001 not in 386 control chromosomes, Refseq: not provided PubMed: Tsurusaki 2014, PubMed: Zarate 2016 - - De novo, Unknown yes - - - - Julia Lopez, Eline van der Sluijs
?/. 2 5i c.237+2T>C r.spl? p.(=) - VUS g.38793742A>G g.40637490A>G c. 237+2T>C p.Lys79_Val80ins3*, p.Ala53_Lys79del - SMARCE1_000022 - PubMed: Smith MJ 2013 - - Germline, Unknown - - - - - Julia Lopez
+/. 1 6 c.242G>A r.(?) p.(Trp81*) - pathogenic g.38792774C>T g.40636522C>T - - SMARCE1_000004 - - - - Germline - - - - - Beatrice Parfait
?/. 1 6 c.275dup r.(?) p.(Leu93ValfsTer17) - VUS g.38792743dup g.40636491dup p.(Leu93Valfs*17) - SMARCE1_000021 - PubMed: Smith MJ 2014 - - Unknown - - - - - Julia Lopez
+?/. 1 - c.276G>C r.(?) p.(Lys92Asn) † - likely pathogenic g.38792740C>G g.40636488C>G - - SMARCE1_000028 - PubMed: Lefebvre 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 6 c.281G>A r.(?) p.(Trp94*) - pathogenic g.38792735C>T g.40636483C>T - - SMARCE1_000005 - - - - Germline - - - - - Beatrice Parfait
-?/. 1 - c.300T>A r.(?) p.(Ile100=) - likely benign g.38792716A>T - SMARCE1(NM_003079.4):c.300T>A (p.I100=) - SMARCE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.311G>A r.(?) p.(Trp104*) - VUS g.38792705C>T g.40636453C>T - - SMARCE1_000020 - PubMed: Smith MJ 2013 - - Unknown - - - - - Julia Lopez
+/., ?/. 2 6 c.314G>A r.(?) p.(Arg105Gln) - pathogenic, VUS g.38792702C>T g.40636450C>T - - SMARCE1_000003 Refseq: not provided PubMed: Santen 2013, PubMed: Zarate 2016 - - De novo, Germline yes - - - - Julia Lopez, Eline van der Sluijs
-?/. 1 - c.351C>T r.(?) p.(Asn117=) - likely benign g.38792665G>A g.40636413G>A SMARCE1(NM_003079.4):c.351C>T (p.N117=) - SMARCE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 3 6 c.374_395inv r.(?) p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu) - VUS g.38792329_38792350inv g.40636077_40636098inv p.(Glu125_Ala132delinsGlyLeuHisArgPhelleValLeu) - SMARCE1_000017 - PubMed: Smith MJ 2014 - - Germline, Unknown - - - - - Julia Lopez
?/. 1 6 c.376T>G r.(?) p.(Tyr126Asp) - VUS g.38792348A>C g.40636096A>C - - SMARCE1_000018 Refseq: not provided PubMed: Zarate 2016 - - De novo - - - - - Julia Lopez
?/. 3 7 c.572dup r.(?) p.(Ala192SerfsTer14), p.(Leu192Profs*18) - VUS g.38788589dup g.40632337dup c.572insC - SMARCE1_000015, SMARCE1_000016 - PubMed: Smith MJ 2013 - - Germline, Unknown - - - - - Julia Lopez
?/. 2 9 c.715C>T r.(?) p.(Arg239*) - VUS g.38787945G>A g.40631693G>A - - SMARCE1_000014 - PubMed: Smith MJ 2013 - - Germline, Unknown - - - - - Julia Lopez
?/. 5 9 c.814del r.(?) p.(Arg272Glyfs*5) - VUS g.38787849del g.40631597del - - SMARCE1_000013 Refseq: not provided PubMed: Gerkes EH 2016 - - Germline - - - - - Julia Lopez
-?/. 1 - c.817-9dup r.(=) p.(=) - likely benign g.38787191dup - SMARCE1(NM_003079.4):c.817-9dupT - SMARCE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.862G>A r.(?) p.(Glu288Lys) - VUS g.38787131C>T g.40630879C>T SMARCE1(NM_003079.4):c.862G>A (p.E288K) - SMARCE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/., ?/. 5 - c.1079G>A r.(?) p.(Gly360Asp) - benign, likely benign, VUS g.38785194C>T g.40628942C>T SMARCE1(NM_003079.4):c.1079G>A (p.G360D, p.(Gly360Asp)) - SMARCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.1122C>T r.(?) p.(Val374=) - likely benign g.38785151G>A g.40628899G>A SMARCE1(NM_003079.4):c.1122C>T (p.V374=) - SMARCE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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