1:154573889-154573889 T > C

Classification

Category 3

non_synonymous

CMH MAF

2 / 6955 samples (0.0288%)
2 het., 0 hom. (100%)
2 / 13910 total alleles (0.0144%)

Genes

Consequences
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

Curation

Uncertain Significance