Classification
Category 2
donor_site
CMH MAF
2 /
11983 samples
(0.0167%)
2 het.,
0 hom.
(100%)
2 /
23966 total alleles
(0.00835%)
Genes
gene: FANCI
synonym(s): KIAA1794, FANCI, ENSG00000140525
ENST00000310775.7
[intron]
Reportable
hgvs_c: ENST00000310775.7:c.3058+1G>A
splice impact: donor_site
protein sequence:
ENSP00000310842.7
NM_018193.2
[intron]
hgvs_c: NM_018193.2:c.2878+1G>A
protein sequence:
NP_060663.2
dbSNP
rs149464307
TOPMED_MAF = 0.00000796381243628
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10378 |
0% |
| America/Latino |
0 / 11560 |
0% |
| East Asian |
0 / 8646 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
1 / 66648 |
0.0015% |
| Other |
0 / 902 |
0% |
| South Asian |
0 / 16466 |
0% |
| Total MAF |
1 / 121214 |
0.000825% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16254 |
0% |
| America/Latino |
0 / 34590 |
0% |
| Ashkenazi Jewish |
0 / 10078 |
0% |
| East Asian |
0 / 18394 |
0% |
| Finnish |
0 / 21644 |
0% |
| Non-Finnish |
2 / 113722 |
0.00176% |
| Other |
0 / 6132 |
0% |
| South Asian |
0 / 30612 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
1 / 42208 |
0.00237% |
| Southern European |
0 / 11494 |
0% |
| Swedish |
0 / 26132 |
0% |
| Other non-Finnish European |
1 / 30976 |
0.00323% |
| Total MAF |
2 / 251426 |
0.000795% |
Export Variant
Curation
Likely pathogenic