Classification
Category 4
curation
CMH MAF
92 /
11948 samples
(0.77%)
92 het.,
0 hom.
(100%)
92 /
23896 total alleles
(0.385%)
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 / 24962 |
0.032% |
| America/Latino |
54 / 35436 |
0.152% |
| Ashkenazi Jewish |
30 / 10366 |
0.289% |
| East Asian |
0 / 19950 |
0% |
| Finnish |
6 / 25108 |
0.0239% |
| Non-Finnish |
397 / 129128 |
0.307% |
| Other |
16 / 7222 |
0.222% |
| South Asian |
64 / 30616 |
0.209% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14420 |
0% |
| Bulgarian |
18 / 2670 |
0.674% |
| Estonian |
0 / 4828 |
0% |
| North-Western European |
163 / 50798 |
0.321% |
| Southern European |
84 / 11606 |
0.724% |
| Swedish |
33 / 26126 |
0.126% |
| Other non-Finnish European |
99 / 33100 |
0.299% |
| Total MAF |
575 / 282788 |
0.203% |
curated_classification = 4
Export Variant