15:89847147-89847147 G > A

Classification

Category 2

donor_site

CMH MAF

2 / 11983 samples (0.0167%)
2 het., 0 hom. (100%)
2 / 23966 total alleles (0.00835%)

Genes

Consequences
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