1:116269619-116269619 T > C

Classification

Category 5

CMH MAF

83 / 6955 samples (1.19%)
77 het., 6 hom. (92.8%)
89 / 13910 total alleles (0.64%)

Genes

Consequences
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

Curation

Benign