Classification
Category 3
non_synonymous
CMH MAF
2 /
6955 samples
(0.0288%)
2 het.,
0 hom.
(100%)
2 /
13910 total alleles
(0.0144%)
Genes
gene: ADAR
synonym(s): ADAR1, AGS6, DRADA, DSH, DSRAD, G1P1, IFI-4, IFI4, K88DSRBP, P136, ADAR, ENSG00000160710
ENST00000368474.4
[CDS]
Reportable
hgvs_c: ENST00000368474.4:c.1229A>G
reference AA: E
variant AA: G
reference codon: gAg
variant codon: gGg
cDNA pos: 1429
CDS pos: 1229
translation impact: non_synonymous
protein sequence:
ENSP00000357459.4
AA pos: 410
hgvs_p: ENSP00000357459.4:p.Glu410Gly
blosum: -2
SIFT: deleterious (0.05)
PolyPhen2: benign (0.009)
ENST00000529168.1
[CDS]
hgvs_c: ENST00000529168.1:c.1214A>G
reference AA: E
variant AA: G
reference codon: gAg
variant codon: gGg
cDNA pos: 1214
CDS pos: 1214
translation impact: non_synonymous
protein sequence:
ENSP00000431794.1
AA pos: 405
hgvs_p: ENSP00000431794.1:p.Glu405Gly
blosum: -2
SIFT: deleterious (0.05)
PolyPhen2: benign (0.209)
NM_001025107.2
[CDS]
hgvs_c: NM_001025107.2:c.344A>G
reference AA: E
variant AA: G
reference codon: gAg
variant codon: gGg
cDNA pos: 1340
CDS pos: 344
translation impact: non_synonymous
protein sequence:
NP_001020278.1
AA pos: 115
hgvs_p: NP_001020278.1:p.Glu115Gly
blosum: -2
SIFT: tolerated (0.06)
PolyPhen2: benign (0.009)
NM_001193495.1
[CDS]
hgvs_c: NM_001193495.1:c.344A>G
reference AA: E
variant AA: G
reference codon: gAg
variant codon: gGg
cDNA pos: 1509
CDS pos: 344
translation impact: non_synonymous
protein sequence:
NP_001180424.1
AA pos: 115
hgvs_p: NP_001180424.1:p.Glu115Gly
blosum: -2
SIFT: tolerated (0.06)
PolyPhen2: benign (0.009)
dbSNP
rs145652884
GMAF = 0.0003994
TOPMED_MAF = 0.00019113149847094
ClinVar
235339
clinvar_significance = Uncertain_significance
clinvar_submission_scv = SCV000280837.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000454,0.000154
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 10406 |
0.0673% |
| America/Latino |
0 / 11578 |
0% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66740 |
0% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16512 |
0% |
| Total MAF |
7 / 121412 |
0.00577% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
20 / 24032 |
0.0832% |
| America/Latino |
0 / 34418 |
0% |
| Ashkenazi Jewish |
0 / 10152 |
0% |
| East Asian |
0 / 18868 |
0% |
| Finnish |
0 / 25794 |
0% |
| Non-Finnish |
0 / 126722 |
0% |
| Other |
0 / 6464 |
0% |
| South Asian |
0 / 30782 |
0% |
| Total MAF |
20 / 277232 |
0.00721% |
Export Variant