Classification
Category 4
three_prime_flank
CMH MAF
58 /
6916 samples
(0.839%)
58 het.,
0 hom.
(100%)
58 /
13832 total alleles
(0.419%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: RPL11
synonym(s): DBA7, GIG34, L11, RPL11, ENSG00000142676
NM_000975.3
[intron]
Reportable
hgvs_c: NM_000975.3:c.7-20G>T
splice impact: three_prime_flank
protein sequence:
NP_000966.2
NM_001199802.1
[intron]
hgvs_c: NM_001199802.1:c.7-23G>T
protein sequence:
NP_001186731.1
dbSNP
rs142110379
GMAF = 0.001797
TOPMED_MAF = 0.00169629204892966
ClinVar
445550
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.001744,0.000454,0.001307
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 10376 |
0.0289% |
| America/Latino |
12 / 11568 |
0.104% |
| East Asian |
0 / 8646 |
0% |
| Finnish |
1 / 6612 |
0.0151% |
| Non-Finnish |
209 / 66630 |
0.314% |
| Other |
2 / 906 |
0.221% |
| South Asian |
37 / 16508 |
0.224% |
| Total MAF |
264 / 121246 |
0.218% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
8 / 24026 |
0.0333% |
| America/Latino |
50 / 34418 |
0.145% |
| Ashkenazi Jewish |
30 / 10150 |
0.296% |
| East Asian |
0 / 18868 |
0% |
| Finnish |
5 / 25776 |
0.0194% |
| Non-Finnish |
384 / 126680 |
0.303% |
| Other |
17 / 6466 |
0.263% |
| South Asian |
63 / 30782 |
0.205% |
| Total MAF |
557 / 277166 |
0.201% |
Export Variant