All variants in the FANCB gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_001018113.1 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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_1i c.(?_-268)_(-192+1_-191-1)del r.0? p.0? FA - pathogenic (recessive) g.(14887166_14891107)_(14891184_?)del - 10693del3314 - FANCB_000061 deletion of 3314 bp including promoter region and exon 1 PubMed: Meetei 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_10i c.(?_-268)_(*160_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_14861529)_(14891184_?)del - g.14331665_14872323del540659 - FANCB_000028 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+?/. 1i_3i c.(-192+1_-191-1)_(951+1_952-1)dup r.? p.? FA - VUS g.(14877457_14882681)_(14887166_14891107)dup - dup ex2-3 - FANCB_000021 dup ex2-3 per CGH, not cloned PubMed: Chandrasekharappa 2013 - - Germline/De novo (untested) ? - - 0 - Arleen D. Auerbach
-?/. 2 c.-173G>C r.(=) p.(=) - - likely benign g.14887147C>G g.14869025C>G - - FANCB_000024 - - - - Germline - - - 0 - Yu Sun
-?/. 2 c.-173G>C r.(=) p.(=) - - likely benign g.14887147C>G g.14869025C>G - - FANCB_000024 - - - - Germline - - - 0 - Yu Sun
-?/. 2i c.-70-246C>T r.(=) p.(=) - - likely benign g.14883948G>A g.14865826G>A - - FANCB_000025 - - - - Germline - - - 0 - Yu Sun
+/. 1 c.? r.(del) p.(del) FA - pathogenic (recessive) g.? - - - FANCB_000000 - - - - Germline ? - - 0 - Arleen D. Auerbach
-?/. - c.7A>G r.(?) p.(Ser3Gly) - - likely benign g.14883626T>C - FANCB(NM_001018113.1):c.7A>G (p.S3G) - FANCB_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.64G>A r.(?) p.(Val22Ile) - - likely benign g.14883569C>T - FANCB(NM_001018113.1):c.64G>A (p.V22I) - FANCB_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.69T>C r.(?) p.(Leu23=) - - likely benign g.14883564A>G - FANCB(NM_001018113.1):c.69T>C (p.L23=) - FANCB_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.128T>C r.(?) p.(Leu37Ser) FA - pathogenic (recessive) g.14883505A>G g.14865383A>G - - FANCB_000007 mother is non-carrier - - - De novo ? - - 0 - Arleen D. Auerbach
+/. 3 c.195dup r.(?) p.(Thr66Tyrfs*25) FA - pathogenic (recessive) g.14883443dup g.14865321dup - - FANCB_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
-?/. - c.262G>A r.(?) p.(Gly88Arg) - - likely benign g.14883371C>T g.14865249C>T FANCB(NM_001018113.1):c.262G>A (p.G88R) - FANCB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.402A>G r.(?) p.(Leu134=) - - benign g.14883231T>C - FANCB(NM_001018113.1):c.402A>G (p.(=)) - FANCB_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.515G>A r.(?) p.(Trp172Ter) - - pathogenic g.14883118C>T g.14864996C>T FANCB(NM_001018113.1):c.515G>A (p.W172*) - FANCB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.688C>T r.(?) p.(Pro230Ser) - - VUS g.14882945G>A g.14864823G>A FANCB(NM_001018113.1):c.688C>T (p.P230S) - FANCB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.706G>A r.(?) p.(Val236Met) - - VUS g.14882927C>T g.14864805C>T FANCB(NM_001018113.1):c.706G>A (p.(Val236Met)) - FANCB_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 3 c.755_767del r.(?) p.(Leu252Serfs*10) FA - pathogenic (recessive) g.14882867_14882879del g.14864745_14864757del - - FANCB_000018 - - - - Germline ? - - 0 - Johan de Winter
+/. 3 c.829dup r.(?) p.(fs*) FA - pathogenic (recessive) g.14882804dup g.14864682dup - - FANCB_000003 - PubMed: Meetei 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 3 c.829dup r.(?) p.(fs*) FA - pathogenic (recessive) g.14882804dup g.14864682dup - - FANCB_000003 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. 3 c.949C>T r.(?) p.(Gln311*) FA - pathogenic (recessive) g.14882684G>A g.14864562G>A - - FANCB_000012 - - - - Germline ? - - 0 - Arleen D. Auerbach
-?/. 3i c.951+129A>C r.(=) p.(=) - - likely benign g.14882553T>G g.14864431T>G - - FANCB_000023 - - - - Germline - - - 0 - Yu Sun
+/. 4 c.986T>C r.(?) p.(Leu323Pro) FA - pathogenic (recessive) g.14877422A>G g.14859300A>G - - FANCB_000010 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 4 c.986T>C r.(?) p.(Leu323Pro) FA - pathogenic (recessive) g.14877422A>G g.14859300A>G - - FANCB_000010 - - - - Germline ? - - 0 - Arleen D. Auerbach
-?/. - c.989T>C r.(?) p.(Ile330Thr) - - likely benign g.14877419A>G g.14859297A>G FANCB(NM_001018113.1):c.989T>C (p.I330T, p.(Ile330Thr)) - FANCB_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.989T>C r.(?) p.(Ile330Thr) - - likely benign g.14877419A>G g.14859297A>G FANCB(NM_001018113.1):c.989T>C (p.I330T, p.(Ile330Thr)) - FANCB_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1008T>A r.(?) p.(Ser336Arg) - - VUS g.14877400A>T g.14859278A>T FANCB(NM_001018113.1):c.1008T>A (p.S336R) - FANCB_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.1103C>A r.(?) p.(Ser362*) FA - pathogenic (recessive) g.14877305G>T g.14859183G>T - - FANCB_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+?/. - c.1104+2T>C r.spl? p.? - - likely pathogenic g.14877302A>G g.14859180A>G FANCB(NM_001018113.1):c.1104+2T>C - FANCB_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1105-6_1105-3dup r.spl? p.? - - likely benign g.14876099_14876102dup g.14857977_14857980dup FANCB(NM_001018113.1):c.1105-3_1105-2insTATT (p.?) - FANCB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1140T>A r.(?) p.(Phe380Leu) - - VUS g.14876041A>T g.14857919A>T FANCB(NM_001018113.1):c.1140T>A (p.F380L, p.(Phe380Leu)) - FANCB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1140T>A r.(?) p.(Phe380Leu) - - likely benign g.14876041A>T - FANCB(NM_001018113.1):c.1140T>A (p.F380L, p.(Phe380Leu)) - FANCB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1179T>C r.(?) p.(Pro393=) - - likely benign g.14876002A>G g.14857880A>G FANCB(NM_001018113.1):c.1179T>C (p.P393=) - FANCB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 6i c.1327-10T>C r.(=) p.(=) - - likely benign g.14868806A>G g.14850684A>G - - FANCB_000022 - - - - Germline - - - 0 - Yu Sun
-?/. 6i c.1327-10T>C r.(=) p.(=) - - likely benign g.14868806A>G g.14850684A>G - - FANCB_000022 - - - - Germline - - - 0 - Yu Sun
-/. - c.1327-10T>C r.(=) p.(=) - - benign g.14868806A>G g.14850684A>G FANCB(NM_001018113.1):c.1327-10T>C - FANCB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1405C>T r.(?) p.(Gln469Ter) - - pathogenic g.14868718G>A g.14850596G>A - - FANCB_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1494G>T r.(?) p.(Lys498Asn) - - benign g.14868629C>A g.14850507C>A FANCB(NM_001018113.1):c.1494G>T (p.K498N) - FANCB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1494G>T r.(?) p.(Lys498Asn) - - benign g.14868629C>A g.14850507C>A FANCB(NM_001018113.1):c.1494G>T (p.K498N) - FANCB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7i c.1496+5G>A r.1327_1496del p.fs* FA - pathogenic (recessive) g.14868622C>T g.14850500C>T - - FANCB_000011 skips exon 7 in cDNA PubMed: Holden 2006 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ 7i_10_ c.(1496+1_1497-1)_(*160_?)del r.(del) p.(del) FA - pathogenic (recessive) g.(?_14861529)_(14863409_14868626)del - 1497-?_2580+?del - FANCB_000014 - PubMed: McCauley 2011 - - Germline ? - - 0 - Arleen D. Auerbach
?/. - c.1577G>A r.(?) p.(Arg526Lys) - - VUS g.14863328C>T - FANCB(NM_001018113.1):c.1577G>A (p.R526K) - FANCB_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1637G>T r.(?) p.(Gly546Val) - - VUS g.14863268C>A g.14845146C>A FANCB(NM_001018113.1):c.1637G>T (p.G546V) - FANCB_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 8 c.1668del r.(?) p.(fs*) FA - pathogenic (recessive) g.14863237del g.14845115del - - FANCB_000002 - PubMed: Meetei 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 8 c.1668del r.(?) p.(fs*) FA - pathogenic (recessive) g.14863237del g.14845115del - - FANCB_000002 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. - c.1668dup r.(?) p.(Asp557Ter) - - pathogenic g.14863237dup - FANCB(NM_001018113.1):c.1668dupT (p.D557*) - FANCB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1674C>A r.(?) p.(Ser558Arg) - - likely benign g.14863231G>T g.14845109G>T FANCB(NM_001018113.1):c.1674C>A (p.(Ser558Arg)) - FANCB_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1720T>A r.(?) p.(Cys574Ser) - - likely benign g.14863185A>T g.14845063A>T FANCB(NM_001018113.1):c.1720T>A (p.(Cys574Ser)) - FANCB_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1765A>G r.(?) p.(Thr589Ala) - - VUS g.14863140T>C g.14845018T>C FANCB(NM_001018113.1):c.1765A>G (p.T589A) - FANCB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1769T>C r.(?) p.(Phe590Ser) - - benign g.14863136A>G g.14845014A>G FANCB(NM_001018113.1):c.1769T>C (p.F590S) - FANCB_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1769T>C r.(?) p.(Phe590Ser) - - likely benign g.14863136A>G g.14845014A>G FANCB(NM_001018113.1):c.1769T>C (p.F590S) - FANCB_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 8 c.1811_1814del r.(?) p.(Arg604Lysfs*18) FA - pathogenic (recessive) g.14863095_14863098del g.14844973_14844976del - - FANCB_000013 mother is non-carrier Auerbach Lab - - De novo ? - - 0 - Arleen D. Auerbach
+/. 8 c.1856_1857insT r.(?) p.(Arg619Serfs*39) FA - pathogenic (recessive) g.14863048_14863049insA g.14844926_14844927insA - - FANCB_000001 - PubMed: Meetei 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ 8 c.1857_1858del r.(?) p.(Arg619Serfs*38) FA - pathogenic (recessive) g.14863049_14863050del g.14844927_14844928del - - FANCB_000016 - PubMed: McCauley 2011 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ 8 c.1857_1858del r.(?) p.(Arg619Serfs*38) FA - pathogenic (recessive) g.14863049_14863050del g.14844927_14844928del - - FANCB_000016 - PubMed: McCauley 2011 - - Germline ? - - 0 - Arleen D. Auerbach
-?/. - c.1996G>A r.(?) p.(Gly666Ser) - - likely benign g.14862794C>T g.14844672C>T FANCB(NM_001018113.1):c.1996G>A (p.G666S, p.(Gly666Ser)) - FANCB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1996G>A r.(?) p.(Gly666Ser) - - benign g.14862794C>T g.14844672C>T FANCB(NM_001018113.1):c.1996G>A (p.G666S, p.(Gly666Ser)) - FANCB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 9 c.2027T>C r.(?) p.(L676P) FA - VUS g.14862763A>G g.14844641A>G - - FANCB_000019 de novo PubMed: Chandrasekharappa 2013 - - Unknown ? - - 0 - Arleen D. Auerbach
?/. 9 c.2059G>T r.(?) p.(E687*) FA - VUS g.14862731C>A g.14844609C>A - - FANCB_000020 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - 0 - Arleen D. Auerbach
?/. - c.2090C>T r.(?) p.(Pro697Leu) - - VUS g.14862700G>A g.14844578G>A FANCB(NM_001018113.1):c.2090C>T (p.P697L, p.(Pro697Leu)) - FANCB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2090C>T r.(?) p.(Pro697Leu) - - likely benign g.14862700G>A g.14844578G>A FANCB(NM_001018113.1):c.2090C>T (p.P697L, p.(Pro697Leu)) - FANCB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2117C>T r.(?) p.(Thr706Ile) - - likely benign g.14862673G>A g.14844551G>A FANCB(NM_001018113.1):c.2117C>T (p.T706I) - FANCB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 9 c.2150T>G r.(?) p.(Leu717*) FA - pathogenic (recessive) g.14862640A>C g.14844518A>C - - FANCB_000017 - PubMed: McCauley 2011 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ 9i c.2165+1G>T r.spl p.? FA - pathogenic (recessive) g.14862624C>A g.14844502C>A - - FANCB_000015 - PubMed: McCauley 2011 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ 9i c.2165+1G>T r.spl p.? FA - pathogenic (recessive) g.14862624C>A g.14844502C>A - - FANCB_000015 - PubMed: McCauley 2011 - - Germline ? - - 0 - Arleen D. Auerbach
-?/. 9i c.2166-186T>C r.(=) p.(=) - - likely benign g.14862289A>G g.14844167A>G - - FANCB_000026 - - - - Germline - - - 0 - Yu Sun
-?/. 9i c.2166-186T>C r.(=) p.(=) - - likely benign g.14862289A>G g.14844167A>G - - FANCB_000026 - - - - Germline - - - 0 - Yu Sun
-?/. 9i c.2166-176A>G r.(=) p.(=) - - likely benign g.14862279T>C g.14844157T>C - - FANCB_000027 - - - - Germline - - - 0 - Yu Sun
-?/. 9i c.2166-176A>G r.(=) p.(=) - - likely benign g.14862279T>C g.14844157T>C - - FANCB_000027 - - - - Germline - - - 0 - Yu Sun
+/. 10 c.2172_2175del r.(?) p.(Thr725Leufs*15) FA - pathogenic (recessive) g.14862096_14862099del g.14843974_14843977del 2172_2175delAACA - FANCB_000004 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 10 c.2172_2175del r.(?) p.(Thr725Leufs*15) FA - pathogenic (recessive) g.14862096_14862099del g.14843974_14843977del 2172_2175delAACA - FANCB_000004 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 10 c.2249G>T r.(?) p.(Gly744Val) FA - VUS g.14862020C>A g.14843898C>A - - FANCB_000006 possibly non-pathogenic, unreported; mother is non-carrier - - - De novo ? - - 0 - Arleen D. Auerbach
+/. 10 c.2249_2252del r.(?) p.(Gly750Valfs*5) FA - pathogenic (recessive) g.14862019_14862022del g.14843897_14843900del - - FANCB_000005 mother is non-carrier - - - De novo ? - - 0 - Arleen D. Auerbach
-?/. - c.2327C>T r.(?) p.(Ala776Val) - - likely benign g.14861942G>A g.14843820G>A FANCB(NM_001018113.1):c.2327C>T (p.A776V) - FANCB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.2327C>T r.(?) p.(Ala776Val) - - likely benign g.14861942G>A - FANCB(NM_001018113.1):c.2327C>T (p.A776V) - FANCB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2395G>A r.(?) p.(Ala799Thr) - - likely benign g.14861874C>T g.14843752C>T FANCB(NM_001018113.1):c.2395G>A (p.A799T) - FANCB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2411A>G r.(?) p.(Asp804Gly) - - likely benign g.14861858T>C g.14843736T>C FANCB(NM_001018113.1):c.2411A>G (p.(Asp804Gly)) - FANCB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2435A>G r.(?) p.(Tyr812Cys) - - likely benign g.14861834T>C g.14843712T>C FANCB(NM_001018113.1):c.2435A>G (p.Y812C) - FANCB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2438G>T r.(?) p.(Arg813Ile) - - VUS g.14861831C>A - FANCB(NM_001018113.1):c.2438G>T (p.R813I) - FANCB_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2452A>G r.(?) p.(Arg818Gly) - - likely benign g.14861817T>C g.14843695T>C FANCB(NM_001018113.1):c.2452A>G (p.R818G) - FANCB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.2477C>T r.(?) p.(Thr826Met) - - VUS g.14861792G>A g.14843670G>A FANCB(NM_001018113.1):c.2477C>T (p.(Thr826Met)) - FANCB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
Legend   How to query