Classification
Category 4
curation
CMH MAF
9 /
11944 samples
(0.0754%)
9 het.,
0 hom.
(100%)
9 /
23888 total alleles
(0.0377%)
Genes
gene: RYR2
synonym(s): ARVC2, ARVD2, RyR, RYR-2, VTSIP, RYR2, ENSG00000198626
NM_001035.2
[intron]
Reportable
hgvs_c: NM_001035.2:c.10935+17G>T
splice impact: five_prime_intronic
protein sequence:
NP_001026.2
dbSNP
rs369635536
GMAF = 0.001198
TOPMED_MAF = 0.00131402905198776
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.002426,0.000756
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
50 / 9584 |
0.522% |
| America/Latino |
3 / 11120 |
0.027% |
| East Asian |
0 / 8386 |
0% |
| Finnish |
0 / 6494 |
0% |
| Non-Finnish |
3 / 65010 |
0.00461% |
| Other |
0 / 882 |
0% |
| South Asian |
0 / 16166 |
0% |
| Total MAF |
56 / 117642 |
0.0476% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
99 / 24016 |
0.412% |
| America/Latino |
10 / 34874 |
0.0287% |
| Ashkenazi Jewish |
0 / 10220 |
0% |
| East Asian |
0 / 19354 |
0% |
| Finnish |
0 / 24592 |
0% |
| Non-Finnish |
4 / 126336 |
0.00317% |
| Other |
3 / 7030 |
0.0427% |
| South Asian |
0 / 30300 |
0% |
| Korean |
0 / 3796 |
0% |
| Japanese |
0 / 134 |
0% |
| Other East Asian |
0 / 13868 |
0% |
| Bulgarian |
0 / 2650 |
0% |
| Estonian |
0 / 4826 |
0% |
| North-Western European |
1 / 49976 |
0.002% |
| Southern European |
3 / 11130 |
0.027% |
| Swedish |
0 / 25416 |
0% |
| Other non-Finnish European |
0 / 32338 |
0% |
| Total MAF |
116 / 276722 |
0.0419% |
curated_classification = 4
Export Variant