Unique variants in the SDHB gene

LUMC SDHB gene variant and NGSnPPGL study group (ENS@T/PRESSOR) database
Information The variants shown are described using the NM_003000.2 transcript reference sequence.

389 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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 1 c.-54121_73-4014del r.0? p.0? - - - likely pathogenic g.17375398_17434636del g.17048903_17108141del SDHB Del promoter + exon 1, 59238bp - SDHB_000246 Jugular PGL PubMed: Hoekstra - - Germline ? - - - - Jean-Pierre Bayley
+?/+ 1 1 c.-16418_73-5173del r.? p.? - - - likely pathogenic g.17376556_17396932del g.17050061_17070437del exon 1 deletion (20kb) - SDHB_000132 - PubMed: Cascon,PubMed: Cascon - - Germline - - - - - Jean-Pierre Bayley
+?/+? 1 1 c.-16416_72+3877del r.? p.? - deletion, large - pathogenic g.17376566_17396930del g.17050071_17070435del exon 1 deletion (20kb) - SDHB_000193 - PubMed: Burnichon - - Germline ? - - - - Jean-Pierre Bayley
+?/+? 2 1 c.-10413_73-3866del r.? p.? - deletion, large - pathogenic g.17375249_17390927del g.17048754_17064432del deletion of exon 1 (16kb), deletion of SDHB exon 1 (16kb) - SDHB_000131 15680 bp del incl. exon 1, 15680 bp del, incl. exon 1 PubMed: Cascon, PubMed: Solis, PubMed: Cascon, PubMed: Cascon, PubMed: Cascon - - Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 1 c.-8570_201-1396del r.(=) p.(=) - - - likely pathogenic g.17361036_17389084del g.17034541_17062589del SDHB Del promoter + exon 1+2, 28199bp - SDHB_000248 - PubMed: Hoekstra - - Germline ? - - - - Jean-Pierre Bayley
+?/+? 1 1 c.-2651_(72+1_73-1)del r.? p.? - deletion, large - pathogenic g.(17371384_17380442)_17383165del - 15678bp deletion in the SDHB gene, which encompasses the promoter and exon 1. - SDHB_000245 - PubMed: Martins PubMed: Weber - - Germline ? - - - - Jean-Pierre Bayley
+?/+? 1 1 c.-2651_(72+1_73-1)dup r.? p.? - duplication, large - likely pathogenic g.(17371384_17380442)_17383165dup - Duplication, c.(?_ ? 151)_72 +? - SDHB_000273 - PubMed: Persu - - Germline ? - - - - Jean-Pierre Bayley
+?/+? 1 1 c.-516_72+333del r.? p.? - - - likely pathogenic g.17380111_17381031del g.17053616_17054536del - - SDHB_000247 3019bp deletion PubMed: Hoekstra - - Germline ? - - - - Jean-Pierre Bayley
?/-? 1 1 c.-198G>A r.(=) p.(=) - - - VUS g.17380712C>T g.17054217C>T 5’ UTR - SDHB_000192 Allelic freq: controls 1/188; patients 1/646 PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
+?/+? 4 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? 0 deletion, large - pathogenic g.(17371384_17380442)_(17380665_?)del - c.-1-?_72+?del, Deletion Exon 1, Deletion Exon 1 (1 kb?), exon 1 deletion (2.5kb) - SDHB_000007 0/5 controls PubMed: Amar, PubMed: McWhinney, PubMed: Bennedbaek, PubMed: Burnichon, 1 more item - - Germline ? - - - - Jean-Pierre Bayley
+/+, +/. 2 1_2i c.(?_-151)_(200+1_201-1)del r.?, r.spl? p.? 0 - - pathogenic g.(17359641_17371255)_(17380665_?)del - c.[-?_200+?del];[=] - SDHB_000202 deletion of exons 1 + 2 PubMed: Kodama, PubMed: Rattenberry - - Germline, Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 - c.(?_-151)_(286+1_287-1)del r.(?) p.? - deletion, large other pathogenic g.(17355232_17359554)_(17380665_?)del - - - SDHB_000410 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+?/+? 1 1_7i c.(?_-151)_(765+1_766-1)del r.? p.? - deletion, large - pathogenic g.(17345454_17349102)_(17380665_?)del - Deletion of exon 1 - 7 - SDHB_000280 - PubMed: Buffet - - Germline ? - - - - Jean-Pierre Bayley
+/+, +?/+? 3 1_8 c.(?_-151)_(*159_?)del r.? p.? 0 deletion, large - pathogenic g.(?_17345217)_(17380665_?)del - Deletion Exon 1-8, whole SDHB gene deletion - SDHB_000087, SDHB_000167, SDHB_000196 - PubMed: Armstrong, PubMed: Cascon, PubMed: Neumann - - Germline ? - - - - Jean-Pierre Bayley
-/-?, -/. 3 1 c.-139G>T r.(=), r.(?) p.(=) - - - benign g.17380653C>A g.17054158C>A '5 UTR, SDHB(NM_003000.2):c.-139G>T - SDHB_000119 located in '5 UTR, Allelic freq controls 1/188; patients 2/646, VKGL data sharing initiative Nederland PubMed: Burnichon - - CLASSIFICATION record, Germline, Unknown - - - - - Janneke Weiss, VKGL-NL_Utrecht
?/? 1 1 c.-70C>T r.(?) p.(?) - - other VUS g.17380584G>A - - - SDHB_000312 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/? 1 1 c.-55C>T r.(?) p.(?) - - other VUS g.17380569G>A - - - SDHB_000313 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
-?/. 1 - c.-33G>T r.(?) p.(=) - - - likely benign g.17380547C>A g.17054052C>A SDHB(NM_003000.2):c.-33G>T - SDHB_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 1 c.-31T>G r.(?) p.(?) - - other VUS g.17380545A>C - - - SDHB_000314 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
-?/-? 1 _1 c.-19del r.(?) p.(?) - - other likely benign g.17380533del - - - SDHB_000315 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/? 1 1 c.-6G>A r.(=) p.(=) - - - VUS g.17380520C>T g.17054025C>T 5' UTR - SDHB_000149 - - - - Unknown - - - - - Kazumasa Isobe
+/+ 1 3i_8_ c.(286+1_287-1)_*159{0} r.? p.? - deletion, large other pathogenic g.(?_17345217)_(17355232_17359554)del - deletion of exons 4 to 8, c.(286+1_287-1)_(*159_?)del - SDHB_000335 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 1i_8_ c.(72+1_73-1)_*159{0} r.? p.0? - deletion, large other pathogenic g.(?_17345217)_(17371384_17380442)del - deletion exons 2 to 8, c.(72+1_73-1)_(*159_?)del - SDHB_000110 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 _1_8_ c.-151_(*159{0} r.0? p.0? - deletion, large other pathogenic g.(?_17345217)_(17380665_?)del - whole gene deletion, c.(?_-151)_(*159_?)del - SDHB_000087 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 _1_2i c.-151_(200+1_201-1){0} r.0? p.0? - deletion, large other pathogenic g.(17359641_17371255)_(17380665_?)del - deletion of exons 1-2, c.(?_-151)_(200+1_201-1)del - SDHB_000202 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 _1_1i c.-151_(72+1_73-1){0} r.0? p.0? - deletion, large other pathogenic g.(17371384_17380442)_(17380665_?)del - exon 1 deletion, c.(?_-151)_(72+1_73-1)del - SDHB_000007 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 _1_7i c.-151_(765+1_766-1){0} r.0? p.0? - deletion, large other pathogenic g.(17345454_17349102)_(17380665_?)del - deletion of exons 1 to 7, c.(?_-151)_(765+1_766-1)del - SDHB_000280 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/? 1 _1_8_ c.-151_*159{2} r.? p.? - duplication, large other VUS g.(?_17345217)_(17380665_?)dup - whole gene duplication, c.(?_-151)_(*159_?)dup - SDHB_000311 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+, +?/+? 2 1 c.3G>A r.(?) p.(Met1?) - nonsense other likely pathogenic g.17380512C>T g.17054017C>T - - SDHB_000154 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Neumann, PubMed: Piccini - - Germline, SUMMARY record - - - - - Jean-Pierre Bayley
+?/+? 1 1 c.3G>C r.(?) p.(Met1?) - - other likely pathogenic g.17380512C>G - - - SDHB_000316 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/-? 2 1 c.8C>G r.(?) p.(Ala3Gly) 0 - - VUS g.17380507G>C g.17054012G>C - - SDHB_000130 Allelic freq: controls 2/188; patients 1/646, 1 more item Burnichon - submitted, PubMed: Ni - rs11203289 Germline - 1.1%, 1.1%/8.5% - - - Jean-Pierre Bayley
+?/+? 2 1 c.8_59del r.(?) p.(Ala3Glufs*57), p.(Ala3Glyfs*57) - frameshift other pathogenic g.17380456_17380507del, g.17380462_17380513del g.17053967_17054018del Deletion of exon 1 - SDHB_000275 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Buffet - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
-?/-? 1 1 c.14T>G r.(?) p.(Val5Gly) - missense other likely benign g.17380501A>C - - - SDHB_000317 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 1 c.15dup r.(?) p.(Ala6Argfs*57) - frameshift other pathogenic g.17380500dup - - - SDHB_000318 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 3 1 c.17_35del r.(?) p.(Ala6Glyfs*65) 0 frameshift other pathogenic g.17380480_17380498del, g.17380482_17380500del g.17053987_17054005del p.Ala6fs, p.Ala6GlyfsX65 - SDHB_000109 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Amar, PubMed: Burnichon - - Germline, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+/+, ?/. 2 1 c.17_42dup r.(?) p.(Ala15Profs*4) - frameshift other pathogenic g.17380473_17380498dup g.17053978_17054003dup c. 17_42dup26, c.17_42dup - SDHB_000276 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR), 1 more item PubMed: Jafri, PubMed: Miettinen - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
-/., ?/-? 6 1 c.18C>A r.(=), r.(?) p.(=), p.(Ala6=) 0 - - benign, VUS g.17380497G>T g.17054002G>T p.Ala6Ala, SDHB(NM_003000.2):c.18C>A (p.A6=) - SDHB_000008 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, Germline - 3.5% - - - Jean-Pierre Bayley, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+?/+? 1 - c.19_42dup r.(?) p.(Leu7_Pro14dup) - duplication other likely pathogenic g.17380473_17380496dup - - - SDHB_000397 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 1 c.20_22delinsC r.(?) p.(Leu7Profs*55) 0 - - pathogenic g.17380493_17380495delinsG g.17053998_17054000delinsG - - SDHB_000191 - - - - Unknown - - - - - Yang Zha
-/., -?/-?, ?/-? 4 1 c.21C>T r.(=), r.(?) p.(=), p.(Leu7=) 0 silent other benign, likely benign, VUS g.17380494G>A g.17053999G>A p.Leu7Leu, SDHB(NM_003000.2):c.21C>T (p.L7=) - SDHB_000009 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR), 1 more item PubMed: Cascon - - CLASSIFICATION record, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley, VKGL-NL_Utrecht, VKGL-NL_VUmc
+?/+, +?/+? 2 1 c.21del r.(?) p.(Ser8Profs*2) 0 frameshift ACMG pathogenic g.17380494del g.17053999del 155 delC (Frameshift) - SDHB_000010 ACMG grading: PVS1,PM2; reported in Neumann 2004. JAMA 292: 943 PubMed: Neumann - - Germline, Unknown - - - - - Andreas Laner, Jean-Pierre Bayley
?/? 1 1 c.23C>T r.(?) p.(Ser8Phe) - - - VUS g.17380492G>A g.17053997G>A S8F - SDHB_000059 poorly conserved aa, polymorphism? PubMed: Castellano - - Unknown - - - - - Jean-Pierre Bayley
-/-, -/., -?/., ?/- 7 1 c.24C>T r.(=), r.(?) p.(=), p.(Ser8=) - silent other benign, likely benign, VUS g.17380491G>A g.17053996G>A p.Ser8Ser, SDHB(NM_003000.2):c.24C>T (p.S8=, p.(Ser8=)) - SDHB_000011 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR), 1 more item PubMed: Bayley - rs148738139 CLASSIFICATION record, Germline, SUMMARY record, Unknown - 1.0%, MAF A=0,007 - - - Andreas Laner, Jean-Pierre Bayley, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/-?, -?/., ?/? 3 1 c.32G>A r.(?) p.(Arg11His) 0 missense other likely benign g.17380483C>T g.17053988C>T R11H, SDHB(NM_003000.2):c.32G>A (p.R11H) - SDHB_000141 0/600 chromosomes, Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR), 1 more item PubMed: Ricketts - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Jean-Pierre Bayley, VKGL-NL_AMC
+?/+? 1 - c.36del r.(?) p.(Leu13Cysfs*64) - frameshift other pathogenic g.17380479del - - - SDHB_000398 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+?/+? 1 1 c.41C>T r.(?) p.(Pro14Leu) - missense other likely pathogenic g.17380474G>A - - - SDHB_000389 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PMID: 31492822 - - SUMMARY record - - - - - Jean-Pierre Bayley
?/+ 1 1 c.44_45dup r.(?) p.(Thr16Profs*62) 0 - - VUS g.17380470_17380471dup g.17053975_17053976dup - - SDHB_000113 - PubMed: Pasini - - Germline - - - - - Jean-Pierre Bayley
?/-? 1 1 c.49A>G r.(?) p.(Thr17Ala) 0 - - VUS g.17380466T>C g.17053971T>C - - SDHB_000221 - - - - Unknown - - - - - Rita Domingues
+/+ 1 1 c.49del r.(?) p.(Thr17Profs*60) 0 - - pathogenic g.17380467del g.17053972del - - SDHB_000155 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
?/? 1 1 c.52C>T r.(?) p.(Leu18Phe) - missense other VUS g.17380463G>A - - - SDHB_000319 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
-/-, -?/. 2 1 c.65G>C r.(?) p.(Cys22Ser) - - - benign, likely benign g.17380450C>G g.17053955C>G C22S, SDHB(NM_003000.2):c.65G>C (p.C22S) - SDHB_000215 VKGL data sharing initiative Nederland PubMed: Baysal - - CLASSIFICATION record, Germline - - - - - Jean-Pierre Bayley, VKGL-NL_Rotterdam
-?/-? 1 1 c.65G>T r.(?) p.(Cys22Leu) - missense other likely benign g.17380450C>A - - - SDHB_000320 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+?/+? 2 1 c.70C>T r.(?) p.(Gln24*), p.(Gln24Ter) - nonsense other likely pathogenic g.17380445G>A g.17053950G>A - - SDHB_000274 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Lefebvre - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+?/+? 2 1i c.72+1G>A r.spl? p.(=), p.(?) 0 splicing affected, splicing affected? other likely pathogenic g.17380442C>T g.17053947C>T Splicesite - SDHB_000171 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Burnichon - - Germline, SUMMARY record - - - - - Jean-Pierre Bayley
+?/+? 1 1i c.72+1G>C r.spl? p.? - - - likely pathogenic g.17380442C>G g.17053947C>G Splice - SDHB_000205 - PubMed: Ricketts - - Germline - - - - - Jean-Pierre Bayley
+?/+? 3 1i c.72+1G>T r.spl? p.(=), p.(?) - splicing affected, splicing affected? other likely pathogenic g.17380442C>A, g.17380442C>T g.17053947C>A (IVS1) Abberant splicing? - SDHB_000065 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Gill, 1 more item - - Germline, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 1i c.72+2_72+6del r.(spl?) p.(?) - splicing affected? other likely pathogenic g.17380437_17380441del - - - SDHB_000321 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/-? 1 1i c.73-111G>A r.(=) p.(=) - - - VUS g.17371494C>T g.17044999C>T (IVS1) - SDHB_000013 - PubMed: Benn, PubMed: Opocher, PubMed: Castellano - - Unknown - 36% - - - Jean-Pierre Bayley
?/? 1 1i c.73-65G>T r.(?) p.(?) - - other VUS g.17371448C>A - - - SDHB_000322 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/-? 1 1i c.73-29del r.(=) p.(=) - - - VUS g.17371420del g.17044925del (IVS1) - SDHB_000012 - PubMed: Benn - - Unknown - 1.0% - - - Jean-Pierre Bayley
+/+ 1 1i c.73-22T>A r.spl? p.(?) - splicing affected other pathogenic g.17371405A>T - - - SDHB_000323 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/- 1 1i c.73-9A>G r.spl? p.(=) - - - VUS g.17371392T>C g.17044897T>C (IVS1) - SDHB_000093 Polymorphism? PubMed: Brouwers - - Unknown - - - - - Jean-Pierre Bayley
+/. 1 - c.73-8A>G r.(=) p.(=) - - - pathogenic g.17371391T>C g.17044896T>C (IVS1) - SDHB_000237 - - - - Germline - - - - - Andreas Laner
+?/+? 1 - c.73-1G>A r.spl? p.? - splicing affected? other likely pathogenic g.17371384C>T - - - SDHB_000399 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 2 c.73_76del r.(?) p.(Ala25Profs*51) 0 - - pathogenic g.17371380_17371383del g.17044885_17044888del - - SDHB_000156 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
+/+, +/. 2 1i_2i, 2 c.(72+1_73-1)_(200+1_201-1)del r.(?) p.(Ala25Metfs*13), p.? - deletion, large other pathogenic .(17359641_17371255)_(17371384_17380442)del, g.(17359641_17371255)_(17371384_17380442)del - Deletion of exon 2, c.[73-?_200+?del];[=], Exon 2 deletion - SDHB_000268 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Casey, PubMed: Rattenberry - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+/. 1 1i_7i c.(72+1_73-1)_(765+1_766-1)del r.(?) p.(Ala25_Lys255del) - - - pathogenic g.(17345454_17349102)_(17371384_17380442)del - c.[73-?_765+?del];[=] - SDHB_000279 - PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
?/+ 1 1i_8 c.(72+1_73-1)_(*159_?)del r.spl? p.? - - - VUS g.(?_17345217)_(17371384_17380442)del - Deletion Exon 3-8 (del exon 2-8?) - SDHB_000110 - PubMed: Amar - - Germline - - - - - Jean-Pierre Bayley
+?/+? 1 - c.78_93del r.(?) p.(Arg27Leufs*45) - frameshift other pathogenic g.17371363_17371378del - - - SDHB_000400 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/-? 1 2 c.79C>G r.(?) p.(Arg27Gly) - - - VUS g.17371377G>C g.17044882G>C - - SDHB_000223 - PubMed: Ni - - Germline - 1.8% - - - Jean-Pierre Bayley
+/+, +/., ?/+ 4 2 c.79C>T r.(?) p.(Arg27*), p.(Arg27Ter) - nonsense other pathogenic g.17371377G>A g.17044882G>A CGA>TGA, CGA>TGA (R27X), C213T (Arg>Stop), SDHB(NM_003000.2):c.79C>T (p.R27*) - SDHB_000006 Finland, Spain, LOH in tumor, VKGL data sharing initiative Nederland, 1 more item PubMed: Naito, 1 more item - - CLASSIFICATION record, SUMMARY record, Unknown - - - - - Takeshi Usui, Jean-Pierre Bayley, VKGL-NL_Utrecht
?/+ 1 2 c.79del r.(?) p.(Arg27Glufs*50) - - - VUS g.17371379del g.17044884del 79delC/S26fs - SDHB_000014 - PubMed: Badenhop - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 2 c.80G>A r.(?) p.(Arg27Gln) - - - VUS g.17371376C>T g.17044881C>T - - SDHB_000272 LOH, but no loss of expression PubMed: Dénes - - Unknown - - - - - Jean-Pierre Bayley
+?/+? 2 2 c.86_92delinsGG r.(?) p.(Ala29Glyfs*32) - frameshift other likely pathogenic g.17371364_17371370delinsCC g.17044869_17044875delinsCC Frameshift & early stop in exon 2 - SDHB_000271 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Buffet - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 - c.87_90dup r.(?) p.(Thr31Profs*33) - frameshift other pathogenic g.17371366_17371369dup - - - SDHB_000401 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+, ?/+ 4 2 c.88del r.(?) p.(Gln30Argfs*47) - frameshift other pathogenic g.17371368del, g.17371370del g.17044875del c.88delC (Frameshift), p.Gln30ArgfsX7 - SDHB_000017 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Benn, PubMed: Burnichon, PubMed: Prasad 2009 - - Germline, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 2 c.88_89insCAGC r.(?) p.(Gln30Profs*34) - frameshift - pathogenic g.17371368_17371369insCTGG g.17044873_17044874insCTGG 221insCCAG (Frameshift) - SDHB_000016 - PubMed: Neumann - - Unknown - - - - - Jean-Pierre Bayley
?/-? 1 2 c.88_90dup r.(?) p.(Gln30dup) - - - VUS g.17371366_17371368dup g.17044871_17044873dup 221ins CAG (Codon 29, ins to Gln) - SDHB_000015 poorly conserved region PubMed: Neumann - - Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 2 c.93dup r.(?) p.(Ala32Serfs*31) - frameshift other likely pathogenic g.17371363dup - - - SDHB_000324 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
?/? 1 2 c.112C>T r.(?) p.(Arg38Cys) - missense other VUS g.17371344G>A - - - SDHB_000325 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 1 2 c.112_113ins2? r.(?) p.Arg38Profs*40 - frameshift - pathogenic g.17371343_17371344ins2? - - - SDHB_000218 - PubMed: Lodish - - Germline - - - - - Jean-Pierre Bayley
+?/+? 2 2 c.118A>G r.(?) p.(Lys40Glu) - missense other likely pathogenic g.17371338T>C g.17044843T>C c.118A>G (K40E) - SDHB_000018 0/50 controls, highly conserved, 1 more item PubMed: McDonnell - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+/+, +?/+? 3 2 c.127G>C r.(?) p.(Ala43Pro) - missense other likely pathogenic g.17371329C>G g.17044834C>G g261c (A43P), p.Ala43Pro - SDHB_000019 LOH at SDHB locus; SDH activity=0; SDHB protein expression=0, 1 more item PubMed: Burnichon, PubMed: Gimenez-Roqueplo, PubMed: Amar - - Germline, SUMMARY record ? - - - - Jean-Pierre Bayley
+?/+? 1 2 c.131T>A r.(?) p.(Ile44Asn) - - - likely pathogenic g.17371325A>T g.17044830A>T c.T282A—Ile44Asn - SDHB_000229 - PubMed: Celestino - - Germline - - - - - Jean-Pierre Bayley
+/+ 3 2 c.136C>G r.(?) p.(Arg46Gly) - missense other pathogenic g.17371320G>C g.17044825G>C 270C/G (Arg>Gly), C270G (R46G), p.Arg46Gly - SDHB_000020 0/300 controls, Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Burnichon, PubMed: Neumann, PubMed: Neumann, PubMed: Gimenez-Roqueplo - - Germline, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+/+, +?/+?, ?/+ 3 2 c.136C>T r.(?) p.(Arg46*), p.(Arg46Ter) - nonsense other pathogenic g.17371320G>A g.17044825G>A c.136C>T (R46X), p.Arg46X - SDHB_000021 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Burnichon, PubMed: Timmers, 1 more item - - Germline, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+/+, +?/+ 3 2 c.137G>A r.(?) p.(Arg46Gln) - missense other pathogenic g.17371319C>T g.17044824C>T g271a (R46Q), c.137G>A (R46Q), p.Arg46Gln - SDHB_000022 0/50 controls, Italy, and other countries, 1 more item PubMed: Burnichon, PubMed: Timmers, 1 more item - - Germline, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 - c.137G>T r.(?) p.(Arg46Leu) - missense other likely pathogenic g.17371319C>A - - - SDHB_000390 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+, ?/+ 2 2 c.141G>A r.(?) p.(Trp47*), p.(Trp47Ter) 0.08 nonsense other pathogenic g.17371315C>T g.17044820C>T - - SDHB_000023 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Bayley, PubMed: Srirangalingam, PubMed: Tuthill - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
+/+, +/., ./. 3 2 c.143A>T r.(?) p.(Asp48Val) - - - pathogenic g.17371313T>A g.17044818T>A p.(Asp48Val), SDHB(NM_003000.2):c.143A>T (p.D48V) - SDHB_000244 Lowered levels on SDH histochemistry and low levels of SDHB protein, 2 more items PubMed: Alston, PubMed: Ardissone - - CLASSIFICATION record, Germline yes - - - - Jean-Pierre Bayley, VKGL-NL_Groningen
+/+, ?/+? 2 2 c.154del r.(?) p.(Ala52Leufs*25) - frameshift other pathogenic g.17371302del g.17044808del - - SDHB_000270 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Lefebvre - - SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
?/? 1 2 c.157G>A r.(?) p.(Gly53Arg) 0.02 missense - likely pathogenic g.17371299C>T g.17044804C>T 291G/A (Gly53>Arg) - SDHB_000024 0/300 controls PubMed: Neumann - - Unknown - - - - - Jean-Pierre Bayley
-?/-?, -?/., ?/. 6 2 c.158G>A r.(?) p.(Gly53Glu) 0 missense other likely benign, VUS g.17371298C>T g.17044803C>T SDHB(NM_003000.2):c.158G>A (p.G53E) - SDHB_000214 France (tumor SDHB IHC pos+), VKGL data sharing initiative Nederland, 1 more item PubMed: Ricketts, PubMed: Burnichon, PubMed: Burnichon - - CLASSIFICATION record, Germline, SUMMARY record, Unknown - 0.14% - - - Jean-Pierre Bayley, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+ 1 2 c.163_166del r.(?) p.(Lys55Leufs*21) - frameshift other pathogenic g.17371290_17371293del - - - SDHB_000326 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+, +/+?, +?/+?, ?/+ 5 2 c.166_170del r.(?) p.(Pro56Tyrfs*5) - frameshift other pathogenic g.17371286_17371290del, g.17371287_17371291del g.17044792_17044796del 300-4 del CCTCA (Frameshift), 300-4delCCTCA, p.Pro56TyrfsX5 - SDHB_000025 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Burnichon, PubMed: Gill, 1 more item - - Germline, SUMMARY record, Unknown ? - - - - Jean-Pierre Bayley, Gabriela Sanso
+?/+? 3 2 c.167C>T r.(?) p.(Pro56Leu) 0.00 missense other likely pathogenic g.17371289G>A g.17044794G>A p.Pro56Leu, P56L - SDHB_000066 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Benn, PubMed: Amar, PubMed: Burnichon - - Germline, SUMMARY record, Unknown - - - - - Jean-Pierre Bayley
-/- 1 2 c.170A>G r.(?) p.(His57Arg) - - - benign g.17371286T>C g.17044791T>C H57R - SDHB_000216 - PubMed: Baysal - - Germline - 2.1% - - - Jean-Pierre Bayley
?/+ 1 2 c.174_175delinsTT r.(?) p.(Met58_Val280delinsIle) 0 - - VUS g.17371281_17371282delinsAA g.17044786_17044787delinsAA c.174-175GC>TT (Q59X) - SDHB_000026 - PubMed: Baysal - - Unknown - - - - - Jean-Pierre Bayley
+?/+? 1 - c.182A>C r.(?) p.(Tyr61Ser) - missense other likely pathogenic g.17371274T>G - - - SDHB_000391 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - Jean-Pierre Bayley
+/+ 2 2 c.183T>G r.(?) p.(Tyr61*), p.(Tyr61Ter) - nonsense other pathogenic g.17371273A>C g.17044778A>C - - SDHB_000219 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PubMed: Lodish - - Germline, SUMMARY record - - - - - Jean-Pierre Bayley
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