Classification
Category 3
CMH MAF
7 /
13333 samples
(0.0525%)
7 het.,
0 hom.
(100%)
7 /
26666 total alleles
(0.0263%)
Genes
gene: RYR2
synonym(s): ARVC2, ARVD2, RyR, RYR-2, VTSIP, RYR2, ENSG00000198626
NM_001035.2
[CDS]
Reportable
hgvs_c: NM_001035.2:c.13291G>A
reference AA: E
variant AA: K
reference codon: Gaa
variant codon: Aaa
cDNA pos: 13411
CDS pos: 13291
translation impact: non_synonymous
protein sequence:
NP_001026.2
AA pos: 4431
hgvs_p: NP_001026.2:p.Glu4431Lys
blosum: 1
PolyPhen2: benign (0.028)
dbSNP
rs571985775
GMAF = 0.0003994
TOPMED_MAF = 0.00028669724770642
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 4624 |
0.0216% |
| America/Latino |
0 / 2260 |
0% |
| East Asian |
0 / 2964 |
0% |
| Finnish |
0 / 3032 |
0% |
| Non-Finnish |
18 / 24164 |
0.0745% |
| Other |
0 / 414 |
0% |
| South Asian |
0 / 9126 |
0% |
| Total MAF |
19 / 46584 |
0.0408% |
COSMIC
COSMIC Mutation ID = COSV63675863
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 21588 |
0.00463% |
| America/Latino |
0 / 31176 |
0% |
| Ashkenazi Jewish |
0 / 9688 |
0% |
| East Asian |
0 / 17120 |
0% |
| Finnish |
1 / 23526 |
0.00425% |
| Non-Finnish |
51 / 106610 |
0.0478% |
| Other |
1 / 6560 |
0.0152% |
| South Asian |
0 / 26594 |
0% |
| Korean |
0 / 3506 |
0% |
| Japanese |
0 / 130 |
0% |
| Other East Asian |
0 / 11924 |
0% |
| Bulgarian |
0 / 2298 |
0% |
| Estonian |
0 / 4798 |
0% |
| North-Western European |
26 / 46290 |
0.0562% |
| Southern European |
1 / 6776 |
0.0148% |
| Swedish |
6 / 17880 |
0.0336% |
| Other non-Finnish European |
18 / 28568 |
0.063% |
| Total MAF |
54 / 242862 |
0.0222% |
Export Variant