Classification
Category 4
curation
CMH MAF
3 /
11944 samples
(0.0251%)
3 het.,
0 hom.
(100%)
3 /
23888 total alleles
(0.0126%)
Genes
gene: RYR2
synonym(s): ARVC2, ARVD2, RyR, RYR-2, VTSIP, RYR2, ENSG00000198626
NM_001035.2
[intron]
Reportable
hgvs_c: NM_001035.2:c.14090+14C>T
splice impact: five_prime_intronic
protein sequence:
NP_001026.2
dbSNP
rs374425124
GMAF = 0.001398
TOPMED_MAF = 0.00068488786952089
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.003729,0.001169
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
29 / 8750 |
0.331% |
| America/Latino |
5 / 10082 |
0.0496% |
| East Asian |
0 / 7744 |
0% |
| Finnish |
0 / 6234 |
0% |
| Non-Finnish |
3 / 59854 |
0.00501% |
| Other |
0 / 800 |
0% |
| South Asian |
0 / 14108 |
0% |
| Total MAF |
37 / 107572 |
0.0344% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
55 / 23782 |
0.231% |
| America/Latino |
8 / 33588 |
0.0238% |
| Ashkenazi Jewish |
0 / 10074 |
0% |
| East Asian |
0 / 19086 |
0% |
| Finnish |
0 / 24866 |
0% |
| Non-Finnish |
5 / 125818 |
0.00397% |
| Other |
1 / 6940 |
0.0144% |
| South Asian |
0 / 28636 |
0% |
| Korean |
0 / 3804 |
0% |
| Japanese |
0 / 132 |
0% |
| Other East Asian |
0 / 13592 |
0% |
| Bulgarian |
0 / 2648 |
0% |
| Estonian |
0 / 4824 |
0% |
| North-Western European |
2 / 49728 |
0.00402% |
| Southern European |
0 / 11004 |
0% |
| Swedish |
0 / 25422 |
0% |
| Other non-Finnish European |
3 / 32192 |
0.00932% |
| Total MAF |
69 / 272790 |
0.0253% |
curated_classification = 4
Export Variant