Classification
Category 5
curation
CMH MAF
175 /
13144 samples
(1.33%)
165 het.,
10 hom.
(94.3%)
185 /
26288 total alleles
(0.704%)
Genes
gene: CASQ2
synonym(s): PDIB2, CASQ2, ENSG00000118729
NM_001232.3
[CDS]
Reportable
hgvs_c: NM_001232.3:c.731A>G
reference AA: H
variant AA: R
reference codon: cAc
variant codon: cGc
cDNA pos: 995
CDS pos: 731
translation impact: non_synonymous
protein sequence:
NP_001223.2
AA pos: 244
hgvs_p: NP_001223.2:p.His244Arg
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.521)
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs28730716
GMAF = 0.02835
TOPMED_MAF = 0.02624872579001019
ClinVar
238671
clinvar_significance = Benign
clinvar_disease = Catecholaminergic polymorphic ventricular tachycardia
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.078302,0.026603
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
876 / 9370 |
9.35% |
| America/Latino |
40 / 10680 |
0.375% |
| East Asian |
0 / 8294 |
0% |
| Finnish |
0 / 5896 |
0% |
| Non-Finnish |
3 / 61330 |
0.00489% |
| Other |
2 / 822 |
0.243% |
| South Asian |
1 / 14796 |
0.00676% |
| Total MAF |
922 / 111188 |
0.829% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2053 / 24794 |
8.28% |
| America/Latino |
155 / 35362 |
0.438% |
| Ashkenazi Jewish |
0 / 10328 |
0% |
| East Asian |
0 / 19882 |
0% |
| Finnish |
0 / 25016 |
0% |
| Non-Finnish |
16 / 128502 |
0.0125% |
| Other |
25 / 7190 |
0.348% |
| South Asian |
5 / 30416 |
0.0164% |
| Korean |
0 / 3764 |
0% |
| Japanese |
0 / 144 |
0% |
| Other East Asian |
0 / 14418 |
0% |
| Bulgarian |
0 / 2662 |
0% |
| Estonian |
0 / 4808 |
0% |
| North-Western European |
7 / 50472 |
0.0139% |
| Southern European |
3 / 11546 |
0.026% |
| Swedish |
0 / 26038 |
0% |
| Other non-Finnish European |
6 / 32976 |
0.0182% |
| Total MAF |
2254 / 281490 |
0.801% |
curated_classification = 5
Export Variant