FANCD2

FA complementation group D2

Summary

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Known Variants1,421 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1133389383:10,070,296G/A—uncertain significance
rs37329743:10,070,336G/C—likely benign
rs20865164833:10,070,343T/C—uncertain significance
rs7511751613:10,070,360C/T—likely benign
rs24706911453:10,070,361T/A—uncertain significance
rs1500753663:10,070,369T/C—uncertain significance
rs1474264183:10,070,374G/A—conflicting classifications of pathogenicity
rs20865173673:10,070,376A/T—uncertain significance
rs7560782353:10,070,379A/G—uncertain significance
rs20865177623:10,070,385G/C—uncertain significance
rs7494021793:10,070,386C/T—likely benign
rs13383920553:10,070,399G/A—uncertain significance
rs20865182263:10,070,401C/T—likely benign
rs24706913163:10,070,403C/G—uncertain significance
rs21249611843:10,070,407T/G—likely pathogenic
rs12696961173:10,070,412A/G—likely benign
rs24706913883:10,070,413T/C—likely benign
rs24706914033:10,070,415T/G—likely benign
rs98332283:10,070,417G/C—benign
rs561761243:10,070,552G/C—likely benign
rs359882393:10,074,145G/Tintron variant—
rs102125413:10,074,253T/A—benign
rs7755075103:10,074,496G/A—likely benign
rs7474121913:10,074,498A/C—likely benign
rs24707084593:10,074,499A/T—likely benign
rs14121380083:10,074,508A/G—likely benign
rs14613248913:10,074,513C/T—uncertain significance
rs24707086473:10,074,514A/G—likely pathogenic
rs11850680653:10,074,515G/T—likely pathogenic
rs9998320703:10,074,521A/G—uncertain significance
rs14794273483:10,074,525A/G—uncertain significance
rs24707087313:10,074,528A/C—uncertain significance
rs455102943:10,074,529A/C—conflicting classifications of pathogenicity
rs24707087843:10,074,532A/G—likely benign
rs14703799013:10,074,540A/G—uncertain significance
rs24707088423:10,074,546C/T—uncertain significance
rs13946581783:10,074,551A/G—uncertain significance
rs7738471653:10,074,554T/C—uncertain significance
rs21249706673:10,074,558A/G—uncertain significance
rs20866373313:10,074,562T/C—likely benign
rs20866374433:10,074,569G/A—uncertain significance
rs1390252313:10,074,573T/C—uncertain significance
rs24707090953:10,074,576A/G—uncertain significance
rs7604500303:10,074,590A/G—uncertain significance
rs564057093:10,074,592C/G—uncertain significance
rs7505345833:10,074,595T/A—conflicting classifications of pathogenicity
rs7803437563:10,074,597T/G—uncertain significance
rs24707092393:10,074,601G/A—likely benign
rs5434559223:10,074,616A/G—likely benign
rs7660986123:10,074,623A/G—uncertain significance
rs24707094013:10,074,625T/A—likely benign
rs24707094533:10,074,631A/G—likely benign
rs351105293:10,074,633C/T—conflicting classifications of pathogenicity
rs7714457563:10,074,634G/A—likely benign
rs24707095223:10,074,637A/G—likely benign
rs24707095273:10,074,638G/A—uncertain significance
rs24707095653:10,074,644C/T—likely pathogenic
rs360844883:10,074,646G/C—likely benign
rs20866403973:10,074,653C/T—likely benign
rs21249709853:10,074,657G/A—likely pathogenic
rs341131383:10,074,665T/G—benign
rs11712089443:10,074,672A/G—likely benign
rs98551433:10,074,913C/T—benign
rs1137717053:10,075,983T/C—benign
rs1113925843:10,075,991A/G—benign
rs7497673033:10,076,125G/A—likely benign
rs2001707603:10,076,133C/A—likely benign
rs20866807893:10,076,135C/G—likely benign
rs13261709963:10,076,138C/T—likely benign
rs11831756443:10,076,139T/C—likely benign
rs7467390143:10,076,144T/C—likely benign
rs13862518573:10,076,147G/A—likely benign
rs20866812593:10,076,148C/T—likely benign
rs3684483993:10,076,149A/G—likely benign
rs7715736003:10,076,151A/T—pathogenic
rs21249745413:10,076,152G/T—likely pathogenic
rs7617223003:10,076,163A/G—likely benign
rs21249745773:10,076,166A/G—uncertain significance
rs13220010723:10,076,168C/T—uncertain significance
rs20866821383:10,076,181G/A—likely benign
rs20866822913:10,076,184C/G—likely benign
rs12219305443:10,076,192C/T—uncertain significance
rs3719155013:10,076,193C/T—likely benign
rs20866826803:10,076,196G/C—likely benign
rs3755063003:10,076,198G/A—uncertain significance
rs7676593423:10,076,203C/T—uncertain significance
rs24707179893:10,076,206C/G—uncertain significance
rs20866830823:10,076,215C/A—uncertain significance
rs7528807413:10,076,218A/G—uncertain significance
rs7498498803:10,076,234C/T—likely benign
rs24707182223:10,076,235C/T—likely benign
rs20866841863:10,076,254C/G—likely benign
rs24707189493:10,076,367A/G—uncertain significance
rs21249750383:10,076,370C/G—likely benign
rs20866868273:10,076,373C/A—likely benign
rs24707190213:10,076,383T/C—uncertain significance
rs15593705423:10,076,384A/G—uncertain significance
rs10049435483:10,076,388G/T—pathogenic
rs11847686103:10,076,390A/C—uncertain significance
rs21249750933:10,076,393T/C—likely benign

Showing 100 of 1,421 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.