Unique variants in the FANCG gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_004629.1 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Reported     

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 - c.55A>G r.(?) p.(Lys19Glu) - - likely benign g.35079467T>C - FANCG(NM_004629.1):c.55A>G (p.K19E) - FANCG_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 1 c.60T>A r.(?) p.(Asn20Lys) - - likely pathogenic (recessive), VUS g.35079462A>T g.35079465A>T - - FANCG_000066 combination variants not reported Pilonetto DV - HC/UFPR (7/9/2015), PubMed: Pilonetto 2017 - - Germline - 1/128 cases FA - - - Johan den Dunnen, Arleen D. Auerbach
+/. 8 1 c.65G>C r.(?) p.(Arg22Pro) FA - pathogenic g.35079457C>G g.35079460C>G - - FANCG_000001 - PubMed: Auerbach 2003, PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Arleen D. Auerbach, Johan de Winter
+?/., ?/. 2 1i c.84+3A>C r.spl, r.spl? p.? - - likely pathogenic (recessive), VUS g.35079435T>G g.35079438T>G - - FANCG_000067 combination variants not reported Pilonetto DV - HC/UFPR (7/9/2015), PubMed: Pilonetto 2017 - - Germline - 1/128 cases FA - - - Johan den Dunnen, Arleen D. Auerbach
+/. 2 1i c.85-1G>A r.spl p.? FA - pathogenic g.35079239C>T g.35079242C>T - - FANCG_000053 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Johan de Winter
+/., +?/. 3 2 c.109_110del r.(?) p.(fs*), p.(Leu37Glufs*19) FA - likely pathogenic, pathogenic g.35079215_35079216del g.35079218_35079219del FANCG(NM_004629.1):c.109_110delCT (p.L37Efs*19) - FANCG_000034 VKGL data sharing initiative Nederland PubMed: Demuth 2000 - - CLASSIFICATION record, Germline ? - - - - Arleen D. Auerbach, VKGL-NL_Rotterdam
+/. 1 2 c.118C>T r.(?) p.(Gln40*) FA - pathogenic g.35079205G>A g.35079208G>A - - FANCG_000014 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 2 c.156dup r.(?) p.(fs*) FA - pathogenic g.35079169dup g.35079172dup - - FANCG_000041 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 2i c.175+1G>A r.spl p.? FA - pathogenic g.35079147C>T g.35079150C>T - - FANCG_000027 - PubMed: Demuth 2000, PubMed: Meyer 2006 - - Germline ? - - - - Arleen D. Auerbach
?/. 1 3 c.179del r.(?) p.(fs) FA - VUS g.35078730del g.35078733del - - FANCG_000060 - PubMed: Wainstein 2013 - - Unknown ? - - - - Arleen D. Auerbach
+/. 2 3 c.212T>C r.(?) p.(Leu71Pro) FA - pathogenic g.35078697A>G g.35078700A>G - - FANCG_000030 - PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 3 c.219_220insT r.(?) p.(fs*) FA - pathogenic g.35078690_35078689ins g.35078692_35078693insA - - FANCG_000005 1 more item PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/., +?/. 3 3 c.244dup p.T81fsX307, r.(?) p.(Ala82GlyfsTer73), p.(fs*) FA - likely pathogenic (recessive), pathogenic g.35078667dup g.35078670dup 244dupG - FANCG_000024 - PubMed: Auerbach 2003, PubMed: Nakanishi 2001, PubMed: Tsangaris 2011 - - Germline ? - - - - Johan den Dunnen, Arleen D. Auerbach
?/. 1 3 c.247del r.(?) p.(fs) FA - VUS g.35078663del g.35078666del - - FANCG_000059 - PubMed: Wainstein 2013 - - Unknown ? - - - - Arleen D. Auerbach
+/. 2 3 c.256C>T r.(?) p.(Gln86*), p.(Gln86Ter) - - pathogenic, pathogenic (recessive) g.35078653G>A g.35078656G>A - - FANCG_000063 combination variants not reported Pilonetto DV - HC/UFPR (7/9/2015), PubMed: Pilonetto 2017 - - Germline - 1/128 cases FA - - - Johan den Dunnen, Arleen D. Auerbach
+/. 1 3 c.271_272del r.(?) p.(fs*) FA - pathogenic g.35078637_35078638del g.35078640_35078641del - - FANCG_000044 - PubMed: Ameziane 2007 - - Germline ? - - - - Arleen D. Auerbach
+/. 27 3i c.307+1G>C r.spl p.? FA - pathogenic, pathogenic (recessive) g.35078601C>G g.35078604C>G - - FANCG_000019 combination variants not reported PubMed: Auerbach 2003, PubMed: Gille 2012, Journal: Gille 2012, PubMed: Pilonetto 2017, 2 more items - - Germline ? 1/128 cases FA - - - Johan den Dunnen, Arleen D. Auerbach, Johan de Winter, Myungshin Kim, Daniel Trujillano
+/. 2 3i c.307+2del r.spl p.? FA - pathogenic g.35078600del g.35078603del - - FANCG_000055 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Arleen D. Auerbach
+/. 9 4 c.313G>T r.(?) p.(Glu105*) FA - pathogenic g.35078335C>A g.35078338C>A - - FANCG_000015 - PubMed: Auerbach 2003, PubMed: de Winter 1998, PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 4 c.346_347del r.(?) p.(fs*) FA - pathogenic g.35078302_35078303del g.35078305_35078306del - - FANCG_000028 - PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 - c.373_375dup r.(?) p.(Val125dup) - - VUS g.35078273_35078275dup g.35078276_35078278dup 373_375dupGTC - FANCG_000078 - PubMed: Jiang 2022 - - Germline/De novo (untested) - >1/309 cases - - - Johan den Dunnen
-?/. 1 - c.422G>A r.(?) p.(Arg141His) - - likely benign g.35078226C>T g.35078229C>T FANCG(NM_004629.1):c.422G>A (p.R141H) - FANCG_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 5 c.565G>T r.(?) p.(Glu189*) FA - pathogenic g.35077342C>A g.35077345C>A - - FANCG_000016 1 more item PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 5 c.572T>G r.(?) p.(Leu191*) FA - pathogenic g.35077335A>C g.35077338A>C - - FANCG_000036 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 5 c.582_584delinsC r.(?) p.(fs*) FA - pathogenic g.35077325_35077323delins g.35077326_35077328delinsG - - FANCG_000007 1 more item PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
-?/. 1 - c.615T>G r.(?) p.(Asp205Glu) - - likely benign g.35077292A>C g.35077295A>C FANCG(NM_004629.1):c.615T>G (p.D205E) - FANCG_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.620del r.(?) p.(fs*) FA - pathogenic g.35077287del g.35077290del - - FANCG_000045 - PubMed: Ameziane 2007 - - Germline ? - - - - Arleen D. Auerbach
+/., ?/. 13 5 c.637_643del r.(?) p.(fs*), p.(Tyr213Lysfs*6) FA ACMG pathogenic, VUS g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - Trujillano et al., submitted, PubMed: Morgan 2005 - - Germline ? - - - - Arleen D. Auerbach, VKGL-NL
+/. 3 5i c.646+1G>T r.spl p.(fs*), p.? FA - pathogenic g.35077260C>A g.35077263C>A - - FANCG_000031 - PubMed: Auerbach 2003, PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 6 c.652C>T r.(?) p.(Gln218*) FA - pathogenic g.35077093G>A g.35077096G>A - - FANCG_000029 - PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/+ 2 6i c.778-1G>C r.spl p.? FA - pathogenic g.35076868C>G g.35076871C>G - - FANCG_000048 - - - - Germline ? - - - - Arleen D. Auerbach
+/. 1 7 c.883dup r.(?) p.(Asp295Glyfs*14) - - pathogenic g.35076766dup g.35076769dup - - FANCG_000069 - - - - Germline - - - - - Daniela Pilonetto
+/., -/. 3 7 c.890C>T r.(?) p.(Thr297Ile) FA - benign, pathogenic g.35076755G>A g.35076758G>A FANCG(NM_004629.1):c.890C>T (p.T297I) - FANCG_000038 VKGL data sharing initiative Nederland PubMed: Nakanishi 2001 - - CLASSIFICATION record, Germline ? - - - - Arleen D. Auerbach, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 7 c.899del r.(?) p.(fs) FA - VUS g.35076746del g.35076749del - - FANCG_000061 - PubMed: Wainstein 2013 - - Unknown ? - - - - Arleen D. Auerbach
+/. 6 7 c.908T>C r.(?) p.(Leu303Pro) FA - pathogenic g.35076737A>G g.35076740A>G - - FANCG_000002 - PubMed: Auerbach 2003, PubMed: Chandra 2005 - - Germline ? - - - - Arleen D. Auerbach
-/. 2 - c.988C>T r.(?) p.(Pro330Ser) - - benign g.35076517G>A g.35076520G>A FANCG(NM_004629.1):c.988C>T (p.P330S) - FANCG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 3 8 c.1008dup r.(?) p.(fs*) FA - pathogenic g.35076497dup g.35076500dup - - FANCG_000008 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 8 c.1066C>T r.(?) p.(Gln356*) FA - pathogenic g.35076439G>A g.35076442G>A - - FANCG_000017 - PubMed: Auerbach 2003, PubMed: Yamada 2000 - - Germline ? - - - - Arleen D. Auerbach
+/+, +/. 74 8, 8i c.1077-2A>G r.spl, r.spl? p.(fs*), p.? FA - pathogenic, pathogenic (recessive) g.35076027T>C g.35076030T>C - - FANCG_000020 combination variants not reported Pilonetto DV - HC/UFPR (07/08/2016), PubMed: Ameziane 2007, PubMed: Auerbach 2003, PubMed: Demuth 2000, 2 more items - - Germline ? 21/255 cases FA, 49/128 cases FA, 7/255 cases FA - - - Johan den Dunnen, Arleen D. Auerbach, Johan de Winter, Daniela Pilonetto, Avani P. Solanki
-/., -?/. 2 - c.1133C>T r.(?) p.(Ser378Leu) - - benign, likely benign g.35075969G>A g.35075972G>A FANCG(NM_004629.1):c.1133C>T (p.(Ser378Leu), p.S378L) - FANCG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/. 1 9i c.1143+5G>A r.spl? p.? FA - pathogenic g.35075954C>T g.35075957C>T - - FANCG_000021 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 9i c.1143+5G>C r.spl p.(Arg359Serfs*22) - - pathogenic g.35075954C>G g.35075957C>G IVS9+5G>C - FANCG_000068 - - - - Germline - - - - - Avani P. Solanki
+/. 2 9i c.1144-11_1144-10delinsGA r.spl? p.? FA - pathogenic g.35075762_35075761delins g.35075764_35075765delinsTC - - FANCG_000022 1 more item PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 3 9i c.1144-1G>C r.spl p.? FA - pathogenic g.35075752C>G g.35075755C>G - - FANCG_000025 - PubMed: Auerbach 2003, PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
?/. 1 10 c.1153C>A r.(?) p.(P385T) FA - VUS g.35075742G>T g.35075745G>T - - FANCG_000056 de novo PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.1157C>T r.(?) p.(Pro386Leu) - - likely benign g.35075738G>A g.35075741G>A FANCG(NM_004629.1):c.1157C>T (p.P386L) - FANCG_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+, +/. 3 10 c.1158del r.(?) p.(Ser387Profs*16), p.(Ser387ProfsTer16) FA - pathogenic, pathogenic (recessive) g.35075742del g.35075745del c.1158delC - FANCG_000049 combination variants not reported Pilonetto DV - HC/UFPR (07/08/2016), PubMed: Pilonetto 2017 - - Germline ? 1/128 cases FA - - - Johan den Dunnen, Arleen D. Auerbach, Daniela Pilonetto
?/. 1 10 c.1158dup r.(?) p.(S387Lfs*8) FA - VUS g.35075742dup g.35075745dup - - FANCG_000058 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
+/. 3 10 c.1182_1192delinsC r.(?) p.(fs*), p.(Glu395TrpfsTer5) FA - pathogenic, pathogenic (recessive) g.35075703_35075713delinsG, g.35075713_35075703delins g.35075706_35075716delinsG - 46,XY FANCG_000046 1 more item PubMed: Auerbach 2003, PubMed: Cagnan 2018 - - Germline ? - - - - Johan den Dunnen, Arleen D. Auerbach
+/. 3 10 c.1183_1192del r.(?) p.(fs*) FA - pathogenic g.35075704_35075713del g.35075707_35075716del - - FANCG_000006 This is a correction of the mutation previously published as 1184-1194del in de Winter et al, 1998. PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 10 c.1216dup r.(?) p.(Gln406Profs*13), p.(Gln406ProfsTer13) - - pathogenic, pathogenic (recessive) g.35075680dup g.35075683dup c.1216dupC - FANCG_000064 combination variants not reported Pilonetto DV - HC/UFPR (7/9/2015), PubMed: Pilonetto 2017 - - Germline - 1/128 cases FA - - - Johan den Dunnen, Arleen D. Auerbach
+/. 3 10 c.1309_1310dup r.(?) p.(fs*) FA - pathogenic g.35075586_35075587dup g.35075589_35075590dup - - FANCG_000009 - PubMed: Auerbach 2003, PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+?/+? 2 10 c.1359del r.(?) p.(Ala454Profs*64) FA - likely pathogenic g.35075536del g.35075539del - - FANCG_000050 - Auerbach Lab - - Germline ? - - - - Myungshin Kim
+/., ?/. 2 10i c.1433+1G>A r.spl, r.spl? p.? - - pathogenic (recessive), VUS g.35075461C>T g.35075464C>T - - FANCG_000065 combination variants not reported Pilonetto DV - HC/UFPR (7/9/2015), PubMed: Pilonetto 2017 - - Germline - 1/128 cases FA - - - Johan den Dunnen, Arleen D. Auerbach
+/. 2 11 c.1471_1473delinsG r.(?) p.(Lys491fs*) FA - pathogenic g.35075285_35075283delins g.35075286_35075288delinsC - - FANCG_000054 1 more item PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Johan de Winter
+/., +?/. 26 11, 11i c.1480+1G>C r.spl p.? FA - likely pathogenic (recessive), pathogenic g.35075275C>G g.35075278C>G - - FANCG_000023 - PubMed: Auerbach 2003, PubMed: de Winter 1998, PubMed: Nakanishi 2001, PubMed: Tsangaris 2011 - - Germline ? - - - - Johan den Dunnen, Arleen D. Auerbach
+/. 2 12 c.1528C>T r.(?) p.(Glu510*) FA - pathogenic g.35075032G>A g.35075035G>A - - FANCG_000039 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
+/., -/., -?/. 5 12 c.1538G>A r.(?) p.(Arg513Gln) FA - benign, likely benign, pathogenic g.35075022C>T g.35075025C>T FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q) - FANCG_000040 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Meyer 2006, PubMed: Narang 2020, Journal: Narang 2020 - rs17885240 CLASSIFICATION record, Germline ? 4/2793 individuals - - - Johan de Winter, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_VUmc, Mohammed Faruq
+/+, +?/. 3 12 c.1561G>T r.(?) p.(G521*), p.(Gly521Ter) FA - likely pathogenic (recessive), pathogenic g.35074999C>A g.35075002C>A - - FANCG_000047 - PubMed: Tsangaris 2011 - - Germline ? - - - - Johan den Dunnen, Arleen D. Auerbach
+/. 6 12 c.1562G>A r.(?) p.(G521E) FA - pathogenic g.35074998C>T g.35075001C>T - - FANCG_000003 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
-?/. 1 - c.1587G>A r.(?) p.(Gln529=) - - likely benign g.35074973C>T g.35074976C>T FANCG(NM_004629.1):c.1587G>A (p.Q529=) - FANCG_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 12 c.1589_1591del r.(?) p.(Asp530_Thr531delinsAla) FA - pathogenic g.35074969_35074971del g.35074972_35074974del - - FANCG_000051 - Department of laboratory medicine, Seoul St.Mary hospital - - Germline ? - - - - Myungshin Kim
+/. 2 12 c.1593del r.(?) p.(fs*) FA - pathogenic g.35074968del g.35074971del - - FANCG_000010 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 4 12 c.1636G>C r.(?), r.spl? p.(Ala495_Gly546del), p.(G546R) FA - pathogenic g.35074924C>G g.35074927C>G - - FANCG_000026 variant occurs on 3' end of exon 12, at splice junction of exon12/exon13 PubMed: Demuth 2000, PubMed: Nakanishi 2001 - - Germline ? - - - - Arleen D. Auerbach
?/. 1 12i c.1636+1G>A r.spl p.? FA - VUS g.35074923C>T g.35074926C>T - - FANCG_000062 - PubMed: Wainstein 2013 - - Unknown ? - - - - Daniela Pilonetto
-/. 1 - c.1636+7A>G r.(=) p.(=) - - benign g.35074917T>C g.35074920T>C FANCG(NM_004629.1):c.1636+7A>G - FANCG_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 12i c.1637-38_1637-28del r.(?) p.(=) FA - pathogenic g.35074519_35074529del g.35074522_35074532del - - FANCG_000042 - PubMed: Meyer 2006 - - Germline ? - - - - Johan de Winter
+/. 9 13 c.1642C>T r.(?) p.(Arg548*) FA - pathogenic g.35074486G>A g.35074489G>A - - FANCG_000018 - PubMed: Auerbach 2003, PubMed: Demuth 2000, PubMed: Nakanishi 2001 - - Germline ? - - - - Arleen D. Auerbach
+/. 6 13 c.1649del r.(?) p.(fs*) FA - pathogenic g.35074479del g.35074482del - - FANCG_000011 - PubMed: Auerbach 2003, PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 13 c.1715G>A r.(?) p.(W572*) FA - pathogenic g.35074413C>T g.35074416C>T - - FANCG_000033 - PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
?/. 1 13 c.1747G>T r.(?) p.(E583*) FA - VUS g.35074381C>A g.35074384C>A - - FANCG_000057 skips exon 13 PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
+/. 2 13 c.1749del r.(?) p.(fs*) FA - pathogenic g.35074380del g.35074383del - - FANCG_000032 - PubMed: Demuth 2000 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 13i c.1761-1G>A r.spl p.? FA - pathogenic g.35074214C>T g.35074217C>T - - FANCG_000052 - Department of laboratory medicine, Seoul St.Mary hospital - - Germline ? - - - - Johan de Winter
+/. 2 13i c.1761-1G>C r.spl p.? FA - pathogenic g.35074214C>G g.35074217C>G - - FANCG_000035 - PubMed: de Winter 1998 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 14 c.1763C>T r.spl? p.(S588F) FA - pathogenic g.35074211G>A g.35074214G>A - - FANCG_000043 1 more item PubMed: Meyer 2006 - - Germline ? - - - - Arleen D. Auerbach
+/. 3 14 c.1771dup r.(?) p.(fs*) FA - pathogenic g.35074207dup g.35074210dup - - FANCG_000013 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 13 14 c.1795_1804del r.(?) p.(Trp599ProfsTer49) FA - pathogenic g.35074171_35074180del g.35074174_35074183del - - FANCG_000012 - PubMed: Auerbach 2003 - - Germline ? - - - - Arleen D. Auerbach
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