Unique variants in gene FANCE

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_021922.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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.-105C>T ACMG: 3 r.(?) p.? - g.35420218C>T - - - FANCE_000043 - - - rs886061326 Germline - - - - - Andreas Laner
?/. 1 1 c.9A>C - r.(?) p.? FA g.35420331A>C g.35452554A>C - - FANCE_000029 - - - rs11759425 Germline ? - - - - Arleen D. Auerbach
-?/. 1 - c.52C>T likely benign r.(?) p.(Pro18Ser) - g.35420374C>T - FANCE(NM_021922.2):c.52C>T (p.(Pro18Ser)) - FANCE_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.53C>T likely benign r.(?) p.(Pro18Leu) - g.35420375C>T - FANCE(NM_021922.2):c.53C>T (p.(Pro18Leu)) - FANCE_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.59C>T likely benign r.(?) p.(Ala20Val) - g.35420381C>T - FANCE(NM_021922.2):c.59C>T (p.A20V) - FANCE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 1 c.91C>T - r.(?) p.(Gln31*) FA g.35420413C>T g.35452636C>T - - FANCE_000004 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
?/. 1 - c.229C>A VUS r.(?) p.(Pro77Thr) - g.35420551C>A - FANCE(NM_021922.2):c.229C>A (p.(Pro77Thr)) - FANCE_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 1i c.248+1G>A - r.spl p.? FA g.35420571G>A g.35452794G>A - - FANCE_000008 - - - - Germline ? - - - - Arleen D. Auerbach
?/. 1 1i c.248+58A>C - r.(?) p.? FA g.35420628A>C g.35452851A>C - - FANCE_000030 - - - rs9470029 Germline ? - - - - Arleen D. Auerbach
?/. 1 1i c.248+111C>T - r.(?) p.? - g.35420681C>T g.35452904C>T - - FANCE_000031 - - - rs11754834 Germline ? ? - - - Arleen D. Auerbach
-/. 1 - c.266G>T benign r.(?) p.(Arg89Leu) - g.35423541G>T - FANCE(NM_021922.2):c.266G>T (p.R89L) - FANCE_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 2 c.355C>T - r.(?) p.(Gln119*) FA g.35423630C>T g.35455853C>T - - FANCE_000001 individual previously published in Joenje et al, 1997 as a FA-E reference cell line. PubMed: de Winter 2000 - - Germline ? - - - - Johan de Winter
?/., -/. 2 2 c.387A>C benign r.(?) p.?, p.(=) - g.35423662A>C g.35455885A>C FANCE(NM_021922.2):c.387A>C (p.P129=) - FANCE_000019 VKGL data sharing initiative Nederland PubMed: Seal et al 2003 - - Germline, CLASSIFICATION record ? - - - - Arleen D. Auerbach, VKGL-NL
-?/. 1 - c.400C>T likely benign r.(?) p.(Arg134Cys) - g.35423675C>T - FANCE(NM_021922.2):c.400C>T (p.(Arg134Cys)) - FANCE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 2 c.421C>T - r.(?) p.(Arg141*) FA g.35423696C>T g.35455919C>T - - FANCE_000002 - PubMed: de Winter 2000 - - Germline ? - - - - Johan de Winter
+/. 2 2 c.436delG - r.(?) p.(Val146Trpfs*33) FA g.35423711_35423711del g.35455934delG - - FANCE_000009 - - - - Germline ? - - - - Arleen D. Auerbach
?/. 1 2 c.551C>A - r.(?) p.(Pro184Gln) FA g.35423826C>A g.35456049C>A - - FANCE_000010 unknown variant 2nd chromosome; P conserved in mouse PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
?/., -?/., -/. 3 2 c.611C>T likely benign, benign r.(?) p.?, p.(Ser204Leu) - g.35423886C>T g.35456109C>T -, FANCE(NM_021922.2):c.611C>T (p.(Ser204Leu), p.S204L) - FANCE_000027 VKGL data sharing initiative Nederland - - rs7761870 Germline, CLASSIFICATION record ? ? - - - Arleen D. Auerbach, VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.696G>A likely benign r.(?) p.(=) - g.35423971G>A - FANCE(NM_021922.2):c.696G>A (p.E232=) - FANCE_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 2i c.855+58A>G - r.(?) p.? - g.35424188A>G g.35456411A>G - - FANCE_000026 - - - rs3800377 Germline ? ? - - - Arleen D. Auerbach
?/. 1 2i c.856-70G>A - r.(?) p.? - g.35425263G>A g.35457486G>A - - FANCE_000025 - - - rs13214239 Germline ? - - - - Arleen D. Auerbach
?/. 1 3i c.900+39A>G - r.(?) p.? - g.35425416A>G g.35457639A>G - - FANCE_000032 - - - rs13214239 Germline ? - - - - Arleen D. Auerbach
-?/. 1 - c.928C>G likely benign r.(?) p.(Pro310Ala) - g.35425720C>G - FANCE(NM_021922.2):c.928C>G (p.P310A) - FANCE_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.929dup VUS r.(?) p.(Val311Serfs*2) - g.35425721dup g.35457944dup 929dupC - FANCE_000047 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
-?/. 1 - c.951C>T likely benign r.(?) p.(=) - g.35425743C>T - FANCE(NM_021922.2):c.951C>T (p.H317=) - FANCE_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 4i c.970-84T>C - r.(?) p.? - g.35425990T>C g.35458213T>C - - FANCE_000023 - - - rs3800376 Germline ? ? - - - Arleen D. Auerbach
?/., -?/. 2 5 c.1018G>C likely benign r.(?) p.?, p.(Gly340Arg) - g.35426122G>C g.35458345G>C FANCE(NM_021922.2):c.1018G>C (p.G340R) - FANCE_000021 VKGL data sharing initiative Nederland PubMed: Seal et al 2003 - - Germline, CLASSIFICATION record ? - - - - Arleen D. Auerbach, VKGL-NL
?/. 1 5 c.1066A>G - r.(?) p.? FA g.35426170A>G g.35458393A>G - - FANCE_000006 - FA Genes and Familial Breast Cancer - - Germline ? - - - - Arleen D. Auerbach
?/., -?/. 2 5 c.1071C>T likely benign r.(?) p.?, p.(=) - g.35426175C>T g.35458398C>T FANCE(NM_021922.2):c.1071C>T (p.(=)) - FANCE_000020 VKGL data sharing initiative Nederland PubMed: Seal et al 2003 - - Germline, CLASSIFICATION record ? - - - - Arleen D. Auerbach, VKGL-NL
?/. 1 5 c.1094G>A - r.(?) p.? FA g.35426198G>A g.35458421G>A - - FANCE_000005 - PubMed: Seal et al 2003 - - Germline ? - - - - Arleen D. Auerbach
+/., +?/. 9 5 c.1111C>T likely pathogenic r.(?) p.(Arg371Trp) FA g.35426215C>T g.35458438C>T - - FANCE_000011 FANCE protein not expressed, VKGL data sharing initiative Nederland PubMed: Ameziane 2007, PubMed: Gille 2012, Journal: Gille 2012 - - Germline, CLASSIFICATION record ? - - - - Johan de Winter, Arleen D. Auerbach, VKGL-NL
?/. 8 5i c.1114-8G>A - r.(?), r.spl? p.(Ile372Leufs*) FA g.35427100G>A g.35459323G>A - - FANCE_000003 individual previously published in Waisfisz et al, 1999 as a FA-E cell line. PubMed: de Winter 2000 - - Germline ? - - - - Johan de Winter, Arleen D. Auerbach
-?/. 1 - c.1114-4G>A likely benign r.spl? p.? - g.35427104G>A - FANCE(NM_021922.2):c.1114-4G>A - FANCE_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 7i c.1316+19G>A - r.(spl?) p.? - g.35427556G>A g.35459779G>A - - FANCE_000034, FANCE_000033 - - - rs6457823 Germline ? ?, - - - - Arleen D. Auerbach
?/. 1 9 c.1463C>G - r.(spl?) p.? - g.35430645C>G g.35462868C>G - - FANCE_000022 - - - rs4713869 Germline ? - - - - Arleen D. Auerbach
?/. 1 9 c.1504G>A - r.(spl?) p.? FA g.35430686G>A g.35462909G>A - - FANCE_000007 - PubMed: Seal et al 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 4 9i c.1510-1G>A - r.spl? p.? FA g.35434020G>A g.35466243G>A - - FANCE_000012 - - - - Germline ? - - - - Arleen D. Auerbach
?/. 1 - c.1556A>C VUS r.(?) p.(Asn519Thr) - g.35434067A>C - FANCE(NM_021922.2):c.1556A>C (p.N519T) - FANCE_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1572G>A likely benign r.(?) p.(=) - g.35434083G>A - FANCE(NM_021922.2):c.1572G>A (p.R524=) - FANCE_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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