Full data view for gene FANCE

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

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-105C>T r.(?) p.(=) - Unknown ACMG VUS g.35420218C>T g.35452441C>T - - FANCE_000043 - - - rs886061326 Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
?/. 1 c.9A>C r.(?) p.(Thr3=) FA Parent #1 - VUS g.35420331A>C g.35452554A>C - - FANCE_000029 - - - rs11759425 Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-?/. - c.52C>T r.(?) p.(Pro18Ser) - Unknown - likely benign g.35420374C>T g.35452597C>T FANCE(NM_021922.2):c.52C>T (p.(Pro18Ser)) - FANCE_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53C>T r.(?) p.(Pro18Leu) - Unknown - likely benign g.35420375C>T g.35452598C>T FANCE(NM_021922.2):c.53C>T (p.(Pro18Leu)) - FANCE_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59C>T r.(?) p.(Ala20Val) - Unknown - likely benign g.35420381C>T g.35452604C>T FANCE(NM_021922.2):c.59C>T (p.A20V) - FANCE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.91C>T r.(?) p.(Gln31*) FA Parent #1 - pathogenic g.35420413C>T g.35452636C>T - - FANCE_000004 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 1 c.91C>T r.(?) p.(Gln31*) FA Parent #2 - pathogenic g.35420413C>T g.35452636C>T - - FANCE_000004 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
?/. - c.229C>A r.(?) p.(Pro77Thr) - Unknown - VUS g.35420551C>A g.35452774C>A FANCE(NM_021922.2):c.229C>A (p.(Pro77Thr)) - FANCE_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.248+1G>A r.spl p.? FA Parent #1 - pathogenic g.35420571G>A g.35452794G>A - - FANCE_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1i c.248+1G>A r.spl p.? FA Parent #2 - pathogenic g.35420571G>A g.35452794G>A - - FANCE_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 1i c.248+58A>C r.(?) p.(=) FA Parent #1 - VUS g.35420628A>C g.35452851A>C - - FANCE_000030 - - - rs9470029 Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 1i c.248+111C>T r.(?) p.(=) - Parent #1 - VUS g.35420681C>T g.35452904C>T - - FANCE_000031 - - - rs11754834 Germline ? ? - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-/. - c.266G>T r.(?) p.(Arg89Leu) - Unknown - benign g.35423541G>T g.35455764G>T FANCE(NM_021922.2):c.266G>T (p.R89L) - FANCE_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.355C>T r.(?) p.(Gln119*) FA Parent #1 - pathogenic 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 ? - - 0 - DNA SEQ - - FANCE - - - ? ? Turkey - - 0 - - 1 Johan de Winter
+/. 2 c.355C>T r.(?) p.(Gln119*) FA Parent #2 - pathogenic 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 ? - - 0 - DNA SEQ - - FANCE - - - ? ? Turkey - - 0 - - 1 Johan de Winter
?/. 2 c.387A>C r.(?) p.(Pro129=) - Parent #1 - VUS g.35423662A>C g.35455885A>C - - FANCE_000019 - PubMed: Seal et al 2003 - - Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-/. - c.387A>C r.(?) p.(Pro129=) - Unknown - benign g.35423662A>C g.35455885A>C FANCE(NM_021922.2):c.387A>C (p.P129=) - FANCE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.400C>T r.(?) p.(Arg134Cys) - Unknown - likely benign g.35423675C>T g.35455898C>T FANCE(NM_021922.2):c.400C>T (p.(Arg134Cys)) - FANCE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.421C>T r.(?) p.(Arg141*) FA Parent #1 - pathogenic g.35423696C>T g.35455919C>T - - FANCE_000002 - PubMed: de Winter 2000 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? Bangladesh - - 0 - - 1 Johan de Winter
+/. 2 c.421C>T r.(?) p.(Arg141*) FA Parent #2 - pathogenic g.35423696C>T g.35455919C>T - - FANCE_000002 - PubMed: de Winter 2000 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? Bangladesh - - 0 - - 1 Johan de Winter
+/. 2 c.436del r.(?) p.(Val146Trpfs*33) FA Parent #1 - pathogenic g.35423711del g.35455934del - - FANCE_000009 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 2 c.436del r.(?) p.(Val146Trpfs*33) FA Parent #2 - pathogenic g.35423711del g.35455934del - - FANCE_000009 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 2 c.551C>A r.(?) p.(Pro184Gln) FA Parent #1 - VUS g.35423826C>A g.35456049C>A - - FANCE_000010 unknown variant 2nd chromosome; P conserved in mouse PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
?/. 2 c.611C>T r.(?) p.(Ser204Leu) - Parent #1 - VUS g.35423886C>T g.35456109C>T - - FANCE_000027 - - - rs7761870 Germline ? ? - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-/. - c.611C>T r.(?) p.(Ser204Leu) - Unknown - benign g.35423886C>T g.35456109C>T FANCE(NM_021922.2):c.611C>T (p.(Ser204Leu), p.S204L) - FANCE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.611C>T r.(?) p.(Ser204Leu) - Unknown - likely benign g.35423886C>T g.35456109C>T FANCE(NM_021922.2):c.611C>T (p.(Ser204Leu), p.S204L) - FANCE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696G>A r.(?) p.(Glu232=) - Unknown - likely benign g.35423971G>A g.35456194G>A FANCE(NM_021922.2):c.696G>A (p.E232=) - FANCE_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.855+58A>G r.(?) p.(=) - Parent #1 - VUS g.35424188A>G g.35456411A>G - - FANCE_000026 - - - rs3800377 Germline ? ? - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 2i c.856-70G>A r.(?) p.(=) - Parent #1 - VUS g.35425263G>A g.35457486G>A - - FANCE_000025 - - - rs13214239 Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 3i c.900+39A>G r.(?) p.(=) - Parent #1 - VUS g.35425416A>G g.35457639A>G - - FANCE_000032 - - - rs13214239 Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-?/. - c.928C>G r.(?) p.(Pro310Ala) - Unknown - likely benign g.35425720C>G g.35457943C>G FANCE(NM_021922.2):c.928C>G (p.P310A) - FANCE_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.929dup r.(?) p.(Val311Serfs*2) - Unknown - VUS g.35425721dup g.35457944dup 929dupC - FANCE_000047 - PubMed: Lhota 2016 - - Germline - - - 0 - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - 0 - - 1 Zdenek Kleibl
-?/. - c.951C>T r.(?) p.(His317=) - Unknown - likely benign g.35425743C>T g.35457966C>T FANCE(NM_021922.2):c.951C>T (p.H317=) - FANCE_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4i c.970-84T>C r.(?) p.(=) - Parent #1 - VUS g.35425990T>C g.35458213T>C - - FANCE_000023 - - - rs3800376 Germline ? ? - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5 c.1018G>C r.(?) p.(Gly340Arg) - Parent #1 - VUS g.35426122G>C g.35458345G>C - - FANCE_000021 - PubMed: Seal et al 2003 - - Germline ? - - 0 - DNA SEQ - - ? - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-?/. - c.1018G>C r.(?) p.(Gly340Arg) - Unknown - likely benign g.35426122G>C g.35458345G>C FANCE(NM_021922.2):c.1018G>C (p.G340R) - FANCE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.1066A>G r.(?) p.(Ser356Gly) FA Parent #1 - VUS g.35426170A>G g.35458393A>G - - FANCE_000006 - FA Genes and Familial Breast Cancer - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5 c.1071C>T r.(?) p.(Leu357=) - Parent #1 - VUS g.35426175C>T g.35458398C>T - - FANCE_000020 - PubMed: Seal et al 2003 - - Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-?/. - c.1071C>T r.(?) p.(Leu357=) - Unknown - likely benign g.35426175C>T g.35458398C>T FANCE(NM_021922.2):c.1071C>T (p.(=)) - FANCE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.1094G>A r.(?) p.(Arg365Lys) FA Parent #1 - VUS g.35426198G>A g.35458421G>A - - FANCE_000005 - PubMed: Seal et al 2003 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #1 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #1 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #1 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 FANCE protein not expressed PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #1 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? Portugal - - 0 - - 1 Johan de Winter
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #2 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #2 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #2 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 FANCE protein not expressed PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA Parent #2 - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? Portugal - - 0 - - 1 Johan de Winter
+?/. - c.1111C>T r.(?) p.(Arg371Trp) - Unknown - likely pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5i c.1114-8G>A r.(?) p.(Ile372Leufs*) FA Parent #1 - VUS 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 ? - - 0 - DNA SEQ - - FANCE - - - ? ? Turkey - - 0 - - 1 Johan de Winter
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA Parent #1 - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA Parent #1 - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA Parent #1 - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA Parent #2 - VUS 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 ? - - 0 - DNA SEQ - - FANCE - - - ? ? Turkey - - 0 - - 1 Johan de Winter
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA Parent #2 - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA Parent #2 - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA Parent #2 - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-?/. - c.1114-4G>A r.spl? p.? - Unknown - likely benign g.35427104G>A g.35459327G>A FANCE(NM_021922.2):c.1114-4G>A - FANCE_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7i c.1316+19G>A r.(spl?) p.(=) - Parent #1 - VUS g.35427556G>A g.35459779G>A - - FANCE_000033 - - - rs6457823 Germline ? ? - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 7i c.1316+19G>A r.(spl?) p.(=) - Parent #1 - VUS g.35427556G>A g.35459779G>A - - FANCE_000033 - - - rs6457823 Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 9 c.1463C>G r.(spl?) p.(Ala488Gly) - Parent #1 - VUS g.35430645C>G g.35462868C>G - - FANCE_000022 - - - rs4713869 Germline ? - - 0 - DNA SEQ - - Healthy/Control - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 9 c.1504G>A r.(spl?) p.(Ala502Thr) FA Parent #1 - VUS g.35430686G>A g.35462909G>A - - FANCE_000007 - PubMed: Seal et al 2003 - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 9i c.1510-1G>A r.spl? p.? FA Parent #1 - pathogenic g.35434020G>A g.35466243G>A - - FANCE_000012 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 9i c.1510-1G>A r.spl? p.? FA Parent #1 - pathogenic g.35434020G>A g.35466243G>A - - FANCE_000012 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 9i c.1510-1G>A r.spl? p.? FA Parent #2 - pathogenic g.35434020G>A g.35466243G>A - - FANCE_000012 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 9i c.1510-1G>A r.spl? p.? FA Parent #2 - pathogenic g.35434020G>A g.35466243G>A - - FANCE_000012 - - - - Germline ? - - 0 - DNA SEQ - - FANCE - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. - c.1556A>C r.(?) p.(Asn519Thr) - Unknown - VUS g.35434067A>C g.35466290A>C FANCE(NM_021922.2):c.1556A>C (p.N519T) - FANCE_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1572G>A r.(?) p.(Arg524=) - Unknown - likely benign g.35434083G>A g.35466306G>A FANCE(NM_021922.2):c.1572G>A (p.R524=) - FANCE_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend