FANCM Chromosome 14
FA complementation group M
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What This Gene Does
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]
Gene Info
Gene Group
"DEAH-box helicases|FA complementation groups|FA core complex"
Locus Type
gene with protein product
Location
14q21.2
Ensembl
ENSG00000187790
Associated Conditions (20)
Fanconi anemia
Inborn genetic diseases
Hereditary cancer
Premature ovarian failure 15
Spermatogenic failure 28
Hereditary cancer-predisposing syndrome
FANCM-related disorder
Fanconi anemia complementation group A
Aplastic anemia
Hepatoblastoma
Hereditary breast ovarian cancer syndrome
Clear cell carcinoma of kidney
Retinoblastoma
See cases
Malignant germ cell tumor of ovary
Familial cancer of breast
Azoospermia
Hereditary nonpolyposis colorectal carcinoma
Male infertility with spermatogenesis disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS1017919543
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1023555775
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer, Inborn genetic diseases
Health Risk
RS112326758
Conflicting classifications of pathogenicity
Premature ovarian failure 15, Spermatogenic failure 28, Fanconi anemia
Health Risk
RS1166545385
Conflicting classifications of pathogenicity
Inborn genetic diseases, Fanconi anemia, Inborn genetic diseases
Health Risk
RS1171394901
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1260789761
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1269122026
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1291848804
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer, Fanconi anemia
Health Risk
RS1299873356
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1304809213
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1375995948
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS138225703
Conflicting classifications of pathogenicity
Fanconi anemia, Spermatogenic failure 28, Premature ovarian failure 15
Health Risk
All Variants (275)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1566783809 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, FANCM-related disorder, Fanconi anemia |
| RS1594481199 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS1889219103 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Premature ovarian failure 15, Fanconi anemia |
| RS2139186499 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Spermatogenic failure 28, Premature ovarian failure 15 |
| RS2139244126 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS2139297782 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS2503084712 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Spermatogenic failure 28, Premature ovarian failure 15 |
| RS2503110158 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS2503188648 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS368728266 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Spermatogenic failure 28, Hereditary cancer-predisposing syndrome |
| RS372276411 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS374626826 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, FANCM-related disorder, Fanconi anemia |
| RS552052505 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS746983128 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia, Fanconi anemia |
| RS747974206 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS751795256 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS751954386 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS755094018 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS757391108 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS758498345 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, FANCM-related disorder, Fanconi anemia |
| RS759378949 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, FANCM-related disorder, Premature ovarian failure 15 |
| RS773014744 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS776133776 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS778176467 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS797045116 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 28, Fanconi anemia, Male infertility with azoospermia or oligozoospermia due to single gene mutation |