Classification
Category 5
CMH MAF
83 /
6955 samples
(1.19%)
77 het.,
6 hom.
(92.8%)
89 /
13910 total alleles
(0.64%)
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
35772
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Cardiac arrhythmia
clinvar_disease = Catecholaminergic polymorphic ventricular tachycardia
clinvar_disease = Cardiovascular phenotype
238671
clinvar_significance = Benign
clinvar_disease = Catecholaminergic polymorphic ventricular tachycardia
clinvar_submission_scv = SCV000511177.1
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 |
1990 / 23868 |
8.34% |
| America/Latino |
152 / 34358 |
0.442% |
| Ashkenazi Jewish |
0 / 10110 |
0% |
| East Asian |
0 / 18798 |
0% |
| Finnish |
0 / 25690 |
0% |
| Non-Finnish |
15 / 126040 |
0.0119% |
| Other |
26 / 6428 |
0.404% |
| South Asian |
3 / 30588 |
0.00981% |
| Total MAF |
2186 / 275880 |
0.792% |
Export Variant