All variants in the SMAD4 gene

Information The variants shown are described using the NM_005359.5 transcript reference sequence.

610 entries on 7 pages. Showing entries 1 - 100.
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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.? r.(?) p.(?) ACMG VUS g.? - IVS10+109A>G - SMAD4_000000 ACMG PM2 PubMed: Tram 2011, Journal: Tram 2011 - - Germline - - - 0 - Karl Heinimann
?/? - c.? r.(?) p.(?) ACMG VUS g.? - IVS11+118A>G - SMAD4_000000 ACMG PM2 PubMed: Tram 2011, Journal: Tram 2011 - - Germline - - - 0 - Karl Heinimann
+/+ - c.? r.(?) p.? - pathogenic (dominant) g.? - t(1;18)(p36.1;q21.1) - SMCHD1_000000 - Journal: Brusgaard 2017 - - Germline - - - 0 - Benjamin Tschupp
+/+ - c.? r.(?) p.? - pathogenic (dominant) g.? - t(1;18)(p36.1;q21.1) - SMCHD1_000000 - Journal: Brusgaard 2017 - - Germline - - - 0 - Benjamin Tschupp
?/? - c.? r.(?) p.? - VUS g.? - SMAD4: pT>G(3576), pA>C(3666), pC>T(4248), pA>G(7732), pA>C(8191); inT(7639); del1(7735-7748), del2(8058-8062). GDF2: pG>A(1775). - SMCHD1_000000 - Hao et al 2017, IJCEM, IJCEM0043096 - - Germline - - - 0 - Benjamin Tschupp
./. - c.-194457_*29410343del r.0? p.0? - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0 - pathogenic (dominant) g.(?_48540028)_(48611412 _?)del - ‐17093‐?_1659+?del - SMAD4_000133 - PubMed: Aretz 2007 - - Germline - - - 0 - Johan den Dunnen
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0 - pathogenic (dominant) g.(?_48540028)_(48611412 _?)del - ‐17093‐?_1659+?del - SMAD4_000133 - PubMed: Aretz 2007 - - De novo - - - 0 - Johan den Dunnen
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0 - pathogenic (dominant) g.(?_48540028)_(48611412 _?)del - ‐17093‐?_1659+?del - SMAD4_000133 - PubMed: Aretz 2007 - - Germline - - - 0 - Johan den Dunnen
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0 - pathogenic (dominant) g.(?_48540028)_(48611412 _?)del - ‐17093‐?_1659+?del - SMAD4_000133 - PubMed: Aretz 2007 - - Germline - - - 0 - Johan den Dunnen
?/+ _1 c.(?_-1382)_(-128+2238_-127-1)del r.0? p.0? ACMG VUS g.(?_48555739)_(48559231_48573289)del - heterozygous deletion of a probe upstream of NC exon 4 and all probes located within NC exon 4 - SMAD4_000136 ACMG PVS1, PM2 Journal: Calva 2011 - - Germline - - - 0 - Karl Heinimann
+/? _1_1i c.(?_-538)_(-128+1_-127-1)del r.0? p.0? ACMG pathogenic g.(?_48556583)_(48556994_48573289)del - del promotor, 2 non-coding exons - SMAD4_000137 ACMG PVS1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - Karl Heinimann
+/? _1_9i c.(?_-538)_(1139+1_1140-1)del r.0? p.0? ACMG pathogenic g.(?_48556583)_(48591977_48593388)del - del ex1-8 - SMAD4_000138 ACMG PVS1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - Karl Heinimann
?/+ _1_9i c.(?_-538)_(1139+1_1140-1)del r.0? p.0? ACMG VUS g.(?_48556583)_(48591977_48593388)del - heterozygous deletion of a probe upstream of NC exon 4 and all probes located within NC exon 4, loss of all probes from coding exons 1–8 - SMAD4_000138 ACMG PVS1, PM2 Journal: Calva 2011 - - Germline - - - 0 - Karl Heinimann
?/? _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0 ACMG VUS g.(?_48556583)_(48611412_?)del - complete gene deletion - SMAD4_000139 ACMG PVS1 Journal: Soer 2015 - - Germline - - - 0 - Karl Heinimann
?/? _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0 ACMG VUS g.(?_48556583)_(48611412_?)del - complete gene deletion - SMAD4_000139 ACMG PVS1 Journal: Soer 2015 - - Germline - - - 0 - Karl Heinimann
?/? _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0? ACMG VUS g.(?_48556583)_(48611412_?)del - hemizygous deletion - SMAD4_000139 ACMG PVS1 PubMed: van Hattem 2008, Journal: van Hattem 2007 - - Germline - - - 0 - Karl Heinimann
?/+ _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0 ACMG VUS g.(?_48556583)_(48611412_?)del - hemizygous deletion - SMAD4_000139 ACMG PVS1, PM2, PP3 Journal: Langeveld 2010 - - Germline - - - 0 - Karl Heinimann
?/+ _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0 ACMG VUS g.(?_48556583)_(48611412_?)del - hemizygous deletion - SMAD4_000139 ACMG PVS1, PM2, PP3 Journal: Langeveld 2010 - - Germline - - - 0 - Karl Heinimann
+/+ _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0 ACMG pathogenic g.(?_48556583)_(48611412_?)del - del ex1-11 - SMAD4_000139 ACMG PVS1, PM2 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann
+/. _1_12_ c.-358_*6575del r.0 p.0 - VUS g.(?_48556763)_(48611412_?)del - del. SMAD4 gene+promotor - SMAD4_000201 - - - - Germline - - - 0 - Benjamin Tschupp
+/. _1_12_ c.-358_*6575del r.0 p.0 - VUS g.48556763_48611412del g.51030393_51085042del -17093-?_1659+?del - SMAD4_000201 - - - - Germline - - - 0 - Benjamin Tschupp
+/. _1_12_ c.-358_*6575del r.0 p.0 - VUS g.48556763_48611412del g.51030393_51085042del -17093-?_1659+?del - SMAD4_000201 - - - - Germline - - - 0 - Benjamin Tschupp
+/. _1_12_ c.-358_*6575del r.0 p.0 - VUS g.48556763_48611412del g.51030393_51085042del -17093-?_1659+?del - SMAD4_000201 - - - - Germline - - - 0 - Benjamin Tschupp
-?/. - c.-127-11_-127-10del r.(=) p.(=) - likely benign g.48573279_48573280del g.51046909_51046910del SMAD4(NM_005359.5):c.-127-11_-127-10delTT - SMAD4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-127-9C>T r.(=) p.(=) - likely benign g.48573281C>T g.51046911C>T SMAD4(NM_005359.5):c.-127-9C>T - SMAD4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.-127-2A>T r.spl? p.? - VUS g.48573288A>T g.51046918A>T SMAD4(NM_005359.5):c.-127-2A>T (, p.(=)) - SMAD4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-127-2A>T r.spl? p.? - likely benign g.48573288A>T g.51046918A>T SMAD4(NM_005359.5):c.-127-2A>T (, p.(=)) - SMAD4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-127-2_-127del r.spl? p.? - likely benign g.48573288_48573290del g.51046918_51046920del SMAD4(NM_005359.5):c.-127-2_-127del (p.(=)) - SMAD4_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-127-1G>T r.spl? p.? - likely benign g.48573289G>T g.51046919G>T SMAD4(NM_005359.5):c.-127-1G>T (p.(=)) - SMAD4_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? _2_9i c.(?_-127-1)_(1139+1_1140-1)del r.0? p.0? ACMG VUS g.(?_48573289)_(48591977_48593388)del - deletion exons 1-8 - SMAD4_000140 ACMG PVS1 Journal: Soer 2015 - - Germline - - - 0 - Karl Heinimann
+/. _2_3i c.(?_-1)_(424+1_425-1)del r.? p.? - VUS g.(?_48573416)_(48575231_48575664)del - del exon 1+2 - SMAD4_000202 - - - - Germline - - - 0 - Benjamin Tschupp
+/. _2_9i c.(?_-1)_(1139+1_1140-1)del r.? p.? - VUS g.(?_48573416)_(48591977_48593388)del - del exon 1-8 - SMAD4_000203 - - - - Germline - - - 0 - Benjamin Tschupp
+/. _2_9i c.(?_-1)_(1139+1_1140-1)del r.? p.? - VUS g.(?_48573416)_(48591977_48593388)del - del exon 1-8 - SMAD4_000203 - - - - Germline - - - 0 - Benjamin Tschupp
?/? 2 c.20C>T r.(?) p.(Thr7Met) - VUS g.48573436C>T g.51047066C>T 20C>T / 1244_1247delACAG - SMAD4_000204 - - - - Germline - - - 0 - Benjamin Tschupp
?/? 2 c.20C>T r.(?) p.(Thr7Met) - VUS g.48573436C>T g.51047066C>T 20C>T / 1244_1247delACAG - SMAD4_000204 - - - - Germline - - - 0 - Benjamin Tschupp
?/? 2 c.20C>T r.(?) p.(Thr7Met) - VUS g.48573436C>T g.51047066C>T 1244_1247delACAG + 20C>T - SMAD4_000204 - - - - Germline - - - 0 - Benjamin Tschupp
-?/. - c.21G>A r.(?) p.(Thr7=) - likely benign g.48573437G>A g.51047067G>A SMAD4(NM_005359.5):c.21G>A (p.T7=) - SMAD4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.21G>A r.(?) p.(Thr7=) - likely benign g.48573437G>A g.51047067G>A SMAD4(NM_005359.5):c.21G>A (p.T7=) - SMAD4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 c.38A>G r.(?) p.(Asn13Ser) ACMG pathogenic g.48573454A>G g.51047084A>G - - SMAD4_000004 rare variant found in a patient with pulmonary arterial hypertension; ACMG PM2, PP3 PubMed: Nasim 2011, ExPASy_066870, Journal: Nasim 2011 - - Germline - - - 0 - SIB - Livia Famiglietti
?/? 2 c.38A>G r.(?) p.(Asn13Ser) - VUS g.48573454A>G g.51047084A>G - - SMAD4_000004 - Journal: Nasim 2011 - - Germline - - - 0 - Benjamin Tschupp
-?/. - c.150A>G r.(?) p.(Lys50=) - likely benign g.48573566A>G g.51047196A>G SMAD4(NM_005359.5):c.150A>G (p.K50=) - SMAD4_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 2 c.153del r.(?) p.(Asp52Metfs*6) - pathogenic (dominant) g.48573569del g.51047199del 153delA - SMAD4_000205 - Journal: Stoffel 2018 - - Germline - - - 0 - Benjamin Tschupp
+?/. - c.153dup r.(?) p.Asp52Argfs*2 ACMG likely pathogenic g.48573569dup g.51047199dup - - SMAD4_000200 ACMG grading: PVS1,PM2 - - rs786203560 Germline - - - 0 - Andreas Laner
?/? 2 c.189_197del r.(?) p.(Asn64_Ala66del) ACMG VUS g.48573605_48573613del g.51047235_51047243del 189_197delAAATGGAGC - SMAD4_000141 ACMG PM2, PM4 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - - Germline - - - 0 - Karl Heinimann
?/? 2 c.189_197del r.(?) p.(Asn64_Ala66del) ACMG VUS g.48573605_48573613del g.51047235_51047243del 189_197delAAATGGAGC - SMAD4_000141 ACMG PM2, PM4 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - - Germline - - - 0 - Karl Heinimann
-?/. - c.228A>G r.(?) p.(Arg76=) - likely benign g.48573644A>G g.51047274A>G SMAD4(NM_005359.5):c.228A>G (p.R76=) - SMAD4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.228A>G r.(?) p.(Arg76=) - likely benign g.48573644A>G g.51047274A>G SMAD4(NM_005359.5):c.228A>G (p.R76=) - SMAD4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.228A>G r.(?) p.(Arg76=) - likely benign g.48573644A>G g.51047274A>G SMAD4(NM_005359.5):c.228A>G (p.R76=) - SMAD4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.249+14G>A r.(=) p.(=) - likely benign g.48573679G>A g.51047309G>A SMAD4(NM_005359.5):c.249+14G>A - SMAD4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. 2i c.249+24A>G r.(=) p.(=) - benign g.48573689A>G g.51047319A>G - - SMAD4_000010 - - - rs77389132 Germline - up to 0.025 - 0 - Andreas Laner
-/. - c.249+24A>G r.(=) p.(=) - benign g.48573689A>G g.51047319A>G - - SMAD4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.249+71A>G r.(=) p.(=) - likely benign g.48573736A>G - - - SMAD4_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.250-10A>G r.(=) p.(=) - likely benign g.48575046A>G g.51048676A>G SMAD4(NM_005359.5):c.250-10A>G - SMAD4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16) - pathogenic (dominant) g.48575066_48575067del g.51048696_51048697del 260_261delGG - SMAD4_000206 - - - - Germline - - - 0 - Benjamin Tschupp
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16) - pathogenic (dominant) g.48575066_48575067del g.51048696_51048697del 260_261delGG - SMAD4_000206 - - - - Germline - - - 0 - Benjamin Tschupp
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16) - pathogenic (dominant) g.48575066_48575067del g.51048696_51048697del 260_261delGG - SMAD4_000206 - - - - Germline - - - 0 - Benjamin Tschupp
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16) - pathogenic (dominant) g.48575066_48575067del g.51048696_51048697del 260_261delGG - SMAD4_000206 - - - - Germline - - - 0 - Benjamin Tschupp
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann
-?/. - c.294C>T r.(?) p.(Leu98=) - likely benign g.48575100C>T g.51048730C>T SMAD4(NM_005359.5):c.294C>T (p.L98=) - SMAD4_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 3 c.302G>A r.(?) p.(Trp101*) ACMG pathogenic g.48575108G>A g.51048738G>A 302G>A | W101X - SMAD4_000077 ACMG PM2, PM4, PP3 PubMed: Gallione 2010, Journal: Gallione 2010 - rs377767323 Germline - - - 0 - Global Variome, with Curator vacancy
-/. - c.354G>A r.(?) p.(Ala118=) - benign g.48575160G>A g.51048790G>A SMAD4(NM_005359.5):c.354G>A (p.A118=) - SMAD4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.354G>A r.(?) p.(Ala118=) - likely benign g.48575160G>A g.51048790G>A SMAD4(NM_005359.5):c.354G>A (p.A118=) - SMAD4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.354G>A r.(?) p.(Ala118=) - benign g.48575160G>A g.51048790G>A SMAD4(NM_005359.5):c.354G>A (p.A118=) - SMAD4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.354G>A r.(?) p.(Ala118=) - likely benign g.48575160G>A g.51048790G>A SMAD4(NM_005359.5):c.354G>A (p.A118=) - SMAD4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.354G>A r.(?) p.(Ala118=) - likely benign g.48575160G>A g.51048790G>A SMAD4(NM_005359.5):c.354G>A (p.A118=) - SMAD4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 3 c.373_374insAT r.(?) p.(Ser125Asnfs*5) ACMG pathogenic g.48575179_48575180insAT g.51048809_51048810insAT 373_4insAT - SMAD4_000062 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - rs377767324 Germline - - - 0 - Global Variome, with Curator vacancy
+/+ 3 c.375_381dup r.(?) p.(Val128Cysfs*17) ACMG pathogenic g.48575181_48575187dup g.51048811_51048817dup 375_381dupTGTCTGT - SMAD4_000037 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - 0 - Global Variome, with Curator vacancy
?/+ 3 c.375_381dup r.(?) p.(Val128Cysfs*17) ACMG VUS g.48575181_48575187dup g.51048811_51048817dup 375dup7 - SMAD4_000037 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - 0 - Karl Heinimann
?/. 4 c.380G>T r.(?) p.(Cys127Phe) - VUS g.48575186G>T g.51048816G>T - - SMAD4_000009 - - - - Germline - - - 0 - Christopher Watson
?/? 3 c.380G>T r.(?) p.(Cys127Phe) - VUS g.48575186G>T g.51048816G>T - - SMAD4_000009 - - - - Germline - - - 0 - Benjamin Tschupp
?/. - c.400G>A r.(?) p.(Glu134Lys) - VUS g.48575206G>A g.51048836G>A SMAD4(NM_005359.5):c.400G>A (p.E134K) - SMAD4_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 3 c.403C>T r.(?) p.(Arg135*) ACMG pathogenic g.48575209C>T g.51048839C>T 403C>T | R135X - SMAD4_000038 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - rs377767326 Germline - - - 0 - Global Variome, with Curator vacancy
+/. 2 c.403C>T r.(?) p.(Arg135*) - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - PubMed: Aretz 2007 - - Germline - - - 0 - Johan den Dunnen
+/+ 3 c.403C>T r.(?) p.(Arg135*) - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - - - - Germline - - - 0 - Benjamin Tschupp
+/+ 3 c.403C>T r.(?) p.(Arg135*) - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - - - - Germline - - - 0 - Benjamin Tschupp
+/+ 3 c.403C>T r.(?) p.(Arg135*) - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - - - - Germline - - - 0 - Benjamin Tschupp
+/. - c.403C>T r.(?) p.(Arg135Ter) - pathogenic g.48575209C>T - SMAD4(NM_005359.5):c.403C>T (p.R135*) - SMAD4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2i c.424+1G>A r.spl p.? ACMG pathogenic g.48575231G>A g.51048861G>A - - SMAD4_000129 ACMG PVS1, PM2, PP3, PP5 PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - rs377767386 Germline - - - 0 - Global Variome, with Curator vacancy
?/+ 3i c.424+1G>A r.spl p.? ACMG VUS g.48575231G>A g.51048861G>A - - SMAD4_000129 ACMG PVS1, PM2, PP3, PP5 Journal: Alberici 2008 - rs377767386 Germline - - - 0 - Karl Heinimann
?/. - c.424+5G>A r.(?) p.? ACMG VUS g.48575235G>A g.51048865G>A - - SMAD4_000127 ACMG grading: PP3; This variant was sigma-ca at age 52y, MSS, no loss of MMR genes in IHC; several cancers in maternal side (CRC and BC); - - rs200772603 Germline - - - 0 - Andreas Laner
?/. - c.424+5G>A r.spl? p.? - VUS g.48575235G>A g.51048865G>A - - SMAD4_000127 - - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
-/? 3i c.424+5G>A r.spl? p.? ACMG benign g.48575235G>A g.51048865G>A - - SMAD4_000127 ACMG PP3, BP6 Journal: Jelsig 2016 - rs200772603 Germline - - - 0 - Karl Heinimann
-?/. - c.424+5G>A r.spl? p.? - likely benign g.48575235G>A g.51048865G>A SMAD4(NM_005359.5):c.424+5G>A - SMAD4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.424+5G>A r.spl? p.? - likely benign g.48575235G>A g.51048865G>A SMAD4(NM_005359.5):c.424+5G>A - SMAD4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.424+19C>A r.(=) p.(=) - benign g.48575249C>A g.51048879C>A - - SMAD4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 3i c.425-6A>G r.spl? p.(=) - pathogenic g.48575659A>G g.51049289A>G - - SMAD4_000131 - PubMed: Aretz 2007 - rs377767327 Germline - - - 0 - Global Variome, with Curator vacancy
?/. - c.425-6A>G r.spl? p.(=) ACMG VUS g.48575659A>G g.51049289A>G - - SMAD4_000128 ACMG grading: PM2,PP3 (Aretz 2007. J Med Genet 44: 702); CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS - - rs377767327 Germline - - - 0 - Andreas Laner
+/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) ACMG pathogenic g.48575670_48575671del g.51049300_51049301del 430-431delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - 0 - Global Variome, with Curator vacancy
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) ACMG VUS g.48575670_48575671del g.51049300_51049301del 426_427delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - 0 - Karl Heinimann
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) ACMG VUS g.48575670_48575671del g.51049300_51049301del 426_427delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - 0 - Karl Heinimann
+/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) ACMG pathogenic g.48575670_48575671del g.51049300_51049301del - - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: Pearlman 2016 - - Germline - - - 0 - Karl Heinimann
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) ACMG VUS g.48575670_48575671del g.51049300_51049301del 320-431delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - 0 - Karl Heinimann
+/+ 2 c.437T>A r.(?) p.(Leu146*) - pathogenic g.48575677T>A g.51049307T>A - - SMAD4_000040 - PubMed: Aretz 2007 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/+ 4 c.437T>A r.(?) p.(Leu146*) - pathogenic (dominant) g.48575677T>A g.51049307T>A - - SMAD4_000040 - - - - Germline - - - 0 - Benjamin Tschupp
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