Unique variants in the ERCC4 gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_005236.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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     
-/. 3 - c.33C>T r.(=), r.(?) p.(=), p.(Ala11=) - - benign g.14014055C>T g.13920198C>T ERCC4(NM_005236.2):c.33C>T (p.(Ala11=)) - ERCC4_000044 1 homozygous; Clinindb (India), 11 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs3136042 CLASSIFICATION record, Germline - 1/2795 individuals, 11/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-?/. 1 - c.37G>A r.(?) p.(Ala13Thr) - - likely benign g.14014059G>A g.13920202G>A ERCC4(NM_005236.2):c.37G>A (p.A13T) - ERCC4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.83A>G r.(?) p.(Asp28Gly) - - likely benign g.14014105A>G - ERCC4(NM_005236.2):c.83A>G (p.D28G) - ERCC4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.86C>A r.(?) p.(Thr29Asn) - - likely benign g.14014108C>A g.13920251C>A ERCC4(NM_005236.2):c.86C>A (p.T29N) - ERCC4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.252C>T r.(=), r.(?) p.(=), p.(Leu84=) - - benign, likely benign g.14015932C>T g.13922075C>T ERCC4(NM_005236.2):c.252C>T (p.L84=, p.(Leu84=)) - ERCC4_000018 9 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs3136056 CLASSIFICATION record, Germline - 9/2793 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, Mohammed Faruq
+/. 1 2i_4i c.388+1164_792+795del r.389_792del p.Gly130Aspfs*18 - - pathogenic (recessive) g.14017232_14022887del g.13923375_13929030del - - ERCC4_000014 - PubMed: Mori 2018 - - Germline - - - - - Junko Oshima
+/. 1 2i_3i c.(388+1_389-1)_(584+1_585-1)del r.? p.? - - pathogenic (recessive) g.(14016069_14020417)_(14020614_14021884)del g.(13922212_13926560)_(13926757_13928027)del del ex3 - ERCC4_000056 - PubMed: Ahmad 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.409C>G r.(?) p.(His137Asp) - - VUS g.14020438C>G - ERCC4(NM_005236.2):c.409C>G (p.H137D) - ERCC4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 3 c.448C>T r.(?) p.(Arg150Cys) - - likely pathogenic g.14020477C>T g.13926620C>T - - ERCC4_000007 1 more item PubMed: Osorio 2013, Journal: Osorio 2013 - rs145402255 Germline no 1573 cases - - - Ana Osorio
+/. 2 - c.458G>C r.(?) p.(Arg153Pro) - - pathogenic, pathogenic (recessive) g.14020487G>C g.13926630G>C - - ERCC4_000045 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Niedernhofer 2006 - rs121913050 Germline - 1/2793 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 1 - c.516_517del r.(?) p.(Thr173Trpfs*37) - - pathogenic g.14020545_14020546del g.13926688_13926689del 516_517delTA - ERCC4_000035 - - - - Germline/De novo (untested) - - - - - IMGAG
+?/? 1 3 c.540_541del r.(?) p.(Arg180Serfs*30) - - likely pathogenic g.14020569_14020570del g.13926712_13926713del 540_541delAG - ERCC4_000008 - PubMed: Osorio 2013, Journal: Osorio 2013 - - Germline ? - - - - Ana Osorio
+?/? 1 3i c.584+1G>A r.389_584del p.Ile131fs - - likely pathogenic g.14020614G>A g.13926757G>A - - ERCC4_000009 not in854 controls PubMed: Osorio 2013, Journal: Osorio 2013 - - Germline - 1/1573 cases - - - Ana Osorio
-?/. 1 - c.590A>G r.(?) p.(His197Arg) - - likely benign g.14021890A>G g.13928033A>G ERCC4(NM_005236.2):c.590A>G (p.H197R) - ERCC4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 4 c.689T>C r.(?) p.(Leu230Pro) FA - pathogenic g.14021989T>C g.13928132T>C - - ERCC4_000003 - PubMed: Bogliolo 2013 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 - c.706T>C r.(?), r.706u>c p.(Cys236Arg), p.Cys236Arg - - pathogenic (recessive) g.14022006T>C g.13928149T>C - - ERCC4_000050 - PubMed: Kashiyama 2013 - - Germline - - - - - Johan den Dunnen
-?/? 1 5 c.800G>A r.(?) p.(Arg267His) - - likely benign g.14024574G>A g.13930717G>A - - ERCC4_000010 not in 854 controls PubMed: Osorio 2013, Journal: Osorio 2013 - rs143479220 Germline - 1/1573 cases - - - Ana Osorio
?/. 1 - c.809T>C r.(?) p.(Leu270Pro) - - VUS g.14024583T>C g.13930726T>C ERCC4(NM_005236.2):c.809T>C (p.(Leu270Pro)) - ERCC4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.974-7G>A r.(=) p.(=) - - benign g.14026007G>A g.13932150G>A ERCC4(NM_005236.2):c.974-7G>A - ERCC4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.974-6T>C r.(=) p.(=) - - likely benign g.14026008T>C g.13932151T>C ERCC4(NM_005236.2):c.974-6T>C - ERCC4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1002G>A r.(?) p.(Ser334=) - - likely benign g.14026042G>A g.13932185G>A ERCC4(NM_005236.2):c.1002G>A (p.S334=) - ERCC4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1069dup r.(?) p.(Ile357Asnfs*3) - - pathogenic g.14026109dup g.13932252dup - - ERCC4_000049 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.1102+20C>T r.(=) p.(=) - - likely benign g.14026162C>T g.13932305C>T ERCC4(NM_005236.2):c.1102+20C>T - ERCC4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., -/., -?/., ?/. 6 - c.1135C>T r.(?) p.(Pro379Ser) - - benign, likely benign, pathogenic (recessive), VUS g.14028081C>T g.13934224C>T ERCC4(NM_005236.2):c.1135C>T (p.P379S, p.(Pro379Ser)) - ERCC4_000037 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Ahmad 2010, PubMed: Narang 2020, Journal: Narang 2020 - rs1799802 CLASSIFICATION record, Germline - 4/2795 individuals - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.1179A>G r.(?) p.(Ala393=) - - likely benign g.14028125A>G g.13934268A>G ERCC4(NM_005236.2):c.1179A>G (p.A393=) - ERCC4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1244G>A r.(?) p.(Arg415Gln) - - likely benign g.14029033G>A g.13935176G>A - - ERCC4_000046 156 heterozygous; Clinindb (India), 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800067 Germline - 156/2795 individuals, 4/2795 individuals - - - Mohammed Faruq
?/. 1 - c.1271T>C r.(?) p.(Ile424Thr) - - VUS g.14029060T>C - ERCC4(NM_005236.2):c.1271T>C (p.I424T) - ERCC4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1334A>C r.(?) p.(Lys445Thr) - - likely benign g.14029123A>C g.13935266A>C ERCC4(NM_005236.2):c.1334A>C (p.K445T) - ERCC4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1469G>A r.(?) p.(Arg490Gln) - - likely benign g.14029258G>A - ERCC4(NM_005236.2):c.1469G>A (p.R490Q) - ERCC4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 8 c.1484_1488del r.(?) p.(Thr495Asnfs*6) FA - pathogenic g.14029273_14029277del g.13935416_13935420del 1484_1488delCTCAA - ERCC4_000002 - PubMed: Bogliolo 2013 - - Unknown ? - - - - Arleen D. Auerbach
+/., -?/. 2 - c.1488A>T r.(?), r.1488a>u p.(Gln496His), p.Gln496His - - likely benign, pathogenic g.14029277A>T g.13935420A>T - - ERCC4_000025 1 heterozygous, no homozygous; Clinindb (India), variant not linked to phenotype PubMed: Mori 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs146601373 Germline - 1/2790 individuals - - - Junko Oshima, Mohammed Faruq
-?/. 1 - c.1563C>G r.(?) p.(Ser521Arg) - - likely benign g.14029352C>G - ERCC4(NM_005236.2):c.1563C>G (p.S521R) - ERCC4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.1727G>C r.(?) p.(Arg576Thr) - - VUS g.14029516G>C g.13935659G>C ERCC4(NM_005236.2):c.1727G>C (p.R576T) - ERCC4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.1730dup r.(?) p.(Tyr577*) - - pathogenic (recessive) g.14029519dup g.13935662dup 1730_1731insA - ERCC4_000051 - PubMed: Kashiyama 2013 - - Germline - - - - - Johan den Dunnen
+/. 4 - c.1765C>T r.(?), r.1765c>u p.(Arg589Trp), p.Arg589Trp - - pathogenic (recessive) g.14029554C>T g.13935697C>T - - ERCC4_000052 - PubMed: Ahmad 2010, PubMed: Kashiyama 2013 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1812-5T>C r.spl? p.? - - likely benign g.14031618T>C g.13937761T>C ERCC4(NM_005236.2):c.1812-5T>C (p.?) - ERCC4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1853G>A r.(?) p.(Arg618His) - - VUS g.14031664G>A g.13937807G>A ERCC4(NM_005236.2):c.1853G>A (p.R618H) - ERCC4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/? 1 9 c.1861A>G r.(?) p.(Thr621Ala) - - likely benign g.14031672A>G g.13937815A>G - - ERCC4_000011 not in 854 controls PubMed: Osorio 2013, Journal: Osorio 2013 - - Germline - 1/1573 cases - - - Ana Osorio
-/. 1 - c.1884A>G r.(?) p.(Glu628=) - - benign g.14031695A>G g.13937838A>G ERCC4(NM_005236.2):c.1884A>G (p.E628=) - ERCC4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1984T>C r.(?) p.(Ser662Pro) - - benign g.14038659T>C - ERCC4(NM_005236.2):c.1984T>C (p.(Ser662Pro)) - ERCC4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +?/? 2 11 c.2065C>A r.(?) p.(Arg689Ser) FA - likely pathogenic, pathogenic g.14041518C>A g.13947661C>A - - ERCC4_000001 1 more item PubMed: Bogliolo 2013, PubMed: Osorio 2013, Journal: Osorio 2013 - rs149364215 Germline, Unknown ? 1/854 controls - - - Ana Osorio, Arleen D. Auerbach
?/. 1 - c.2080G>A r.(?) p.(Glu694Lys) - - VUS g.14041533G>A g.13947676G>A ERCC4(NM_005236.2):c.2080G>A (p.(Glu694Lys)) - ERCC4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2108G>A r.(?) p.(Gly703Asp) - - benign g.14041561G>A g.13947704G>A 2090A>G - ERCC4_000054 - PubMed: Sijbers 1996 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2117T>C r.(?) p.(Ile706Thr) - - VUS g.14041570T>C g.13947713T>C ERCC4(NM_005236.2):c.2117T>C (p.I706T) - ERCC4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., ?/. 3 11 c.2169C>A r.(?) p.(Cys723*), p.(Cys723Ter) - - pathogenic, VUS g.14041622C>A g.13947765C>A - - ERCC4_000005 - PubMed: Jiang 2022 - - Germline, Germline/De novo (untested) - 1/486 cases - - - Gerard C.P. Schaafsma, Johan den Dunnen
+?/? 1 11 c.2291del r.(?) p.(Ser764Thrfs*53) - - likely pathogenic g.14041744del g.13947887del - - ERCC4_000012 not in 1573 cases PubMed: Osorio 2013, Journal: Osorio 2013 - - Germline - 1/854 controls - - - Ana Osorio
?/. 1 - c.2292C>T r.(?) p.(Ser764=) - - VUS g.14041745C>T g.13947888C>T ERCC4(NM_005236.2):c.2292C>T (p.S764=) - ERCC4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2304_2307del r.2304_2307del p.Thr770Profs*46 - - pathogenic (recessive) g.14041757_14041760del g.13947900_13947903del 2281delTCTC - ERCC4_000053 - PubMed: Sijbers 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2314del r.(?) p.(Arg772Glufs*45) - - pathogenic g.14041767del - ERCC4(NM_005236.2):c.2314delC (p.R772Efs*45) - ERCC4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 11 c.2357C>T r.(?) p.(Ser786Phe) - - likely pathogenic g.14041810C>T g.13947953C>T - - ERCC4_000013 1 more item PubMed: Osorio 2013, Journal: Osorio 2013 - rs143081574 Germline - 1/1573 cases - - - Ana Osorio
+/+ 1 11 c.2371_2398dup r.(?) p.(Ile800Thrfs*24) FA - pathogenic g.14041824_14041851dup g.13947967_13947994dup 2371_2398dup28 - ERCC4_000004 - PubMed: Bogliolo 2013 - - Germline ? - - - - Arleen D. Auerbach
+/., ?/. 13 11 c.2395C>T r.(?), r.2395c>u p.(Arg799Trp), p.Arg799Trp - - pathogenic, pathogenic (recessive), VUS g.14041848C>T g.13947991C>T, g.14041848C>T 1327A>T (R443W), 2377C>T, ERCC4(NM_005236.2):c.2395C>T (p.R799W), g.32835C>T, R788W - ERCC4_000006 VKGL data sharing initiative Nederland PubMed: Ahmad 2010, PubMed: Matsumura 1998, PubMed: Mori 2018, PubMed: Sijbers 1996, 1 more item - - CLASSIFICATION record, Germline, Unknown yes - - - - Gerard C.P. Schaafsma, Johan den Dunnen, Claire Guissart, IMGAG, VKGL-NL_Rotterdam, Junko Oshima, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.2459A>G r.(?) p.(Lys820Arg) - - VUS g.14041912A>G g.13948055A>G ERCC4(NM_005236.2):c.2459A>G (p.(Lys820Arg)) - ERCC4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2505T>C r.(?) p.(=) - - benign g.14041958T>C g.13948101T>C 2487C>T - ERCC4_000055 - PubMed: Sijbers 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2579C>A r.2579c>a p.Ala860Asp - - pathogenic g.14042032C>A g.13948175C>A - - ERCC4_000030 variant not linked to phenotype PubMed: Mori 2018 - - Germline - - - - - Junko Oshima
-/., -?/. 4 - c.2624A>G r.(?) p.(Glu875Gly) - - benign, likely benign g.14042077A>G g.13948220A>G ERCC4(NM_005236.2):c.2624A>G (p.(Glu875Gly), p.E875G) - ERCC4_000043 1 homozygous; Clinindb (India), 9 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs1800124 CLASSIFICATION record, Germline - 1/2794 individuals, 9/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.2647G>A r.(?) p.(Glu883Lys) - - likely benign g.14042100G>A g.13948243G>A ERCC4(NM_005236.2):c.2647G>A (p.(Glu883Lys)) - ERCC4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.2655G>A r.(=), r.(?) p.(=), p.(Thr885=) - - benign, likely benign g.14042108G>A g.13948251G>A ERCC4(NM_005236.2):c.2655G>A (p.(Thr885=), p.T885=) - ERCC4_000031 34 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs16963255 CLASSIFICATION record, Germline - 34/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_VUmc, Mohammed Faruq
-?/. 2 - c.2724C>T r.(?) p.(Val908=) - - likely benign g.14042177C>T g.13948320C>T ERCC4(NM_005236.2):c.2724C>T (p.V908=) - ERCC4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 2 - c.*3801C>T r.(=) p.(=) - - likely benign g.14046005C>T g.13952148C>T - - ERCC4_000047 110 heterozygous; Clinindb (India), 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113403633 Germline - 110/2795 individuals, 4/2795 individuals - - - Mohammed Faruq
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