FANCM

FA complementation group M

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 M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Known Variants1,971 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18834025914:45,605,022G/T—likely benign
rs20218276514:45,605,230G/A—likely benign
rs75214107614:45,605,235A/G—uncertain significance
rs121554062414:45,605,240C/T—likely benign
rs213909923414:45,605,243A/G—likely benign
rs14074434614:45,605,245G/A—uncertain significance
rs125820544014:45,605,248A/G—uncertain significance
rs37431579014:45,605,249A/G—likely benign
rs146450099514:45,605,251G/T—uncertain significance
rs75373788014:45,605,257T/A—uncertain significance
rs124879617414:45,605,260T/G—uncertain significance
rs14574597914:45,605,264G/A—conflicting classifications of pathogenicity
rs213909947214:45,605,270G/T—uncertain significance
rs75523690814:45,605,280A/G—uncertain significance
rs97475048614:45,605,285C/T—likely benign
rs132396953414:45,605,286C/T—pathogenic
rs14660906914:45,605,287G/A—conflicting classifications of pathogenicity
rs188546700914:45,605,288A/G—likely benign
rs20138338514:45,605,290C/T—uncertain significance
rs19969978514:45,605,293C/G—conflicting classifications of pathogenicity
rs56324867514:45,605,297G/C—likely benign
rs37703119114:45,605,302C/A—uncertain significance
rs188546832214:45,605,303G/C—likely benign
rs77153984114:45,605,304G/C—uncertain significance
rs188546882714:45,605,305G/T—uncertain significance
rs188546904914:45,605,309C/T—likely benign
rs105316158014:45,605,312C/T—likely benign
rs188546977114:45,605,314C/T—uncertain significance
rs138816860314:45,605,315C/T—likely benign
rs188547029914:45,605,317G/T—uncertain significance
rs37326882214:45,605,322G/C—uncertain significance
rs88605049614:45,605,326G/T—uncertain significance
rs11264152814:45,605,327A/G—likely benign
rs250303321214:45,605,329C/T—uncertain significance
rs75991149814:45,605,332A/G—uncertain significance
rs213910012414:45,605,337C/T—uncertain significance
rs137004871514:45,605,338C/G—uncertain significance
rs119008943914:45,605,339T/C—likely benign
rs141634675914:45,605,340G/A—uncertain significance
rs76017983614:45,605,342C/A—likely benign
rs76348665814:45,605,345C/T—likely benign
rs76165207714:45,605,348C/G—likely benign
rs76527563414:45,605,351G/A—likely benign
rs75018464514:45,605,353C/G—uncertain significance
rs188547631514:45,605,354G/T—likely benign
rs250303348614:45,605,355C/A—uncertain significance
rs54872609014:45,605,356C/T—uncertain significance
rs94721553114:45,605,358T/A—uncertain significance
rs213910037814:45,605,360G/A—likely benign
rs213910048414:45,605,370G/A—uncertain significance
rs75640222914:45,605,374A/G—uncertain significance
rs125003944314:45,605,381G/A—likely benign
rs250303382714:45,605,387G/A—uncertain significance
rs77771376314:45,605,391G/A—uncertain significance
rs14755975014:45,605,393C/T—likely benign
rs213910072114:45,605,394G/C—uncertain significance
rs14801756214:45,605,397G/A—uncertain significance
rs125543444914:45,605,398A/T—uncertain significance
rs14200760214:45,605,405G/C—conflicting classifications of pathogenicity
rs155535840414:45,605,406C/T—uncertain significance
rs188548240214:45,605,407T/G—uncertain significance
rs117832667814:45,605,408T/G—uncertain significance
rs213910094614:45,605,411C/T—likely benign
rs20071715114:45,605,413C/A—conflicting classifications of pathogenicity
rs250303416314:45,605,414G/A—likely benign
rs141776641514:45,605,416C/G—uncertain significance
rs213910102514:45,605,417G/A—likely benign
rs74660944614:45,605,418T/C—uncertain significance
rs76841996114:45,605,421G/A—uncertain significance
rs188548430914:45,605,423G/T—uncertain significance
rs101523852914:45,605,424G/T—uncertain significance
rs188548513214:45,605,429G/A—conflicting classifications of pathogenicity
rs76139843814:45,605,435G/T—uncertain significance
rs96236864414:45,605,436T/C—likely benign
rs129987335614:45,605,438G/A—conflicting classifications of pathogenicity
rs126912202614:45,605,448A/G—conflicting classifications of pathogenicity
rs122300636414:45,605,449A/G—uncertain significance
rs11125242614:45,605,453C/A—likely benign
rs76522716814:45,605,454G/A—uncertain significance
rs134890339414:45,605,455G/C—uncertain significance
rs15010087014:45,605,460T/C—uncertain significance
rs213910151514:45,605,462C/T—likely benign
rs6174689514:45,605,463G/A—likely benign
rs37716487614:45,605,465C/T—likely benign
rs99567745214:45,605,466T/C—uncertain significance
rs75379755114:45,605,467C/A—uncertain significance
rs188549144214:45,605,469G/C—uncertain significance
rs125407355814:45,605,474C/T—likely benign
rs53846458014:45,605,476C/T—uncertain significance
rs74634929114:45,605,478C/T—likely benign
rs188549341814:45,605,480G/A—likely benign
rs188549366314:45,605,481T/G—uncertain significance
rs159475070614:45,605,485T/G—uncertain significance
rs155535844514:45,605,488A/G—uncertain significance
rs213910185914:45,605,490C/T—uncertain significance
rs139408435114:45,605,494C/T—uncertain significance
rs141005268414:45,605,495C/A—likely benign
rs156671643314:45,605,497A/G—uncertain significance
rs139005320614:45,605,501C/T—likely benign
rs14290466814:45,605,503C/T—uncertain significance

Showing 100 of 1,971 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.