Classification
Category 4
CMH MAF
28 /
13144 samples
(0.213%)
28 het.,
0 hom.
(100%)
28 /
26288 total alleles
(0.107%)
Genes
gene: ACTN2
synonym(s): CMD1AA, ACTN2, ENSG00000077522
ENST00000366578.4
[CDS]
Reportable
hgvs_c: ENST00000366578.4:c.26A>G
reference AA: Q
variant AA: R
reference codon: cAg
variant codon: cGg
cDNA pos: 192
CDS pos: 26
translation impact: non_synonymous
protein sequence:
ENSP00000355537.4
AA pos: 9
hgvs_p: ENSP00000355537.4:p.Gln9Arg
blosum: 1
SIFT: tolerated_low_confidence (0.25)
PolyPhen2: benign (0.001)
ENST00000542672.1
[CDS]
hgvs_c: ENST00000542672.1:c.26A>G
reference AA: Q
variant AA: R
reference codon: cAg
variant codon: cGg
cDNA pos: 246
CDS pos: 26
translation impact: non_synonymous
protein sequence:
ENSP00000443495.1
AA pos: 9
hgvs_p: ENSP00000443495.1:p.Gln9Arg
blosum: 1
SIFT: tolerated_low_confidence (0.24)
PolyPhen2: benign (0.001)
NM_001278344.1
[5_utr]
hgvs_c: NM_001278344.1:c.-796A>G
cDNA pos: 246
protein sequence:
NP_001265273.1
dbSNP
rs121434525
GMAF = 0.000599
TOPMED_MAF = 0.00076452599388379
ClinVar
18313
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Primary dilated cardiomyopathy
clinvar_disease = Cardiomyopathy
clinvar_disease = Primary familial hypertrophic cardiomyopathy
clinvar_disease = Dilated cardiomyopathy 1AA
clinvar_disease = Cardiovascular phenotype
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000814,0.000000,0.000538
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 9854 |
0% |
| America/Latino |
10 / 11350 |
0.0881% |
| East Asian |
0 / 8494 |
0% |
| Finnish |
2 / 6392 |
0.0313% |
| Non-Finnish |
71 / 64536 |
0.11% |
| Other |
0 / 858 |
0% |
| South Asian |
0 / 16344 |
0% |
| Total MAF |
83 / 117828 |
0.0704% |
COSMIC
COSMIC Mutation ID = COSV63972128
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 20268 |
0.00987% |
| America/Latino |
20 / 30496 |
0.0656% |
| Ashkenazi Jewish |
17 / 9366 |
0.182% |
| East Asian |
0 / 15124 |
0% |
| Finnish |
4 / 24784 |
0.0161% |
| Non-Finnish |
135 / 116270 |
0.116% |
| Other |
2 / 6116 |
0.0327% |
| South Asian |
0 / 27042 |
0% |
| Korean |
0 / 3018 |
0% |
| Japanese |
0 / 112 |
0% |
| Other East Asian |
0 / 10434 |
0% |
| Bulgarian |
3 / 2644 |
0.113% |
| Estonian |
4 / 4694 |
0.0852% |
| North-Western European |
59 / 41256 |
0.143% |
| Southern European |
20 / 11472 |
0.174% |
| Swedish |
12 / 26052 |
0.0461% |
| Other non-Finnish European |
37 / 30152 |
0.123% |
| Total MAF |
180 / 249466 |
0.0722% |
Export Variant