Classification
Category 3
non_synonymous
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: ANK3
synonym(s): ANKYRIN-G, ANK3, ENSG00000151150
NM_001204403.1
[CDS]
hgvs_c: NM_001204403.1:c.1277C>T
reference AA: S
variant AA: L
reference codon: tCg
variant codon: tTg
cDNA pos: 1484
CDS pos: 1277
translation impact: non_synonymous
protein sequence:
NP_001191332.1
AA pos: 426
hgvs_p: NP_001191332.1:p.Ser426Leu
blosum: -2
SIFT: deleterious_low_confidence (0.0)
PolyPhen2: benign (0.0)
NM_001204404.1
[CDS]
hgvs_c: NM_001204404.1:c.1244C>T
reference AA: S
variant AA: L
reference codon: tCg
variant codon: tTg
cDNA pos: 1673
CDS pos: 1244
translation impact: non_synonymous
protein sequence:
NP_001191333.1
AA pos: 415
hgvs_p: NP_001191333.1:p.Ser415Leu
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.997)
NM_020987.3
[CDS]
Reportable
hgvs_c: NM_020987.3:c.1295C>T
reference AA: S
variant AA: L
reference codon: tCg
variant codon: tTg
cDNA pos: 1633
CDS pos: 1295
translation impact: non_synonymous
protein sequence:
NP_066267.2
AA pos: 432
hgvs_p: NP_066267.2:p.Ser432Leu
blosum: -2
PolyPhen2: probably_damaging (0.997)
dbSNP
rs377696913
TOPMED_MAF = 0.00005574668705402
ClinVar
377333
clinvar_significance = Uncertain_significance
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000227,0.000077
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 10354 |
0.00966% |
| America/Latino |
0 / 11494 |
0% |
| East Asian |
0 / 8618 |
0% |
| Finnish |
0 / 6594 |
0% |
| Non-Finnish |
1 / 66340 |
0.00151% |
| Other |
0 / 904 |
0% |
| South Asian |
0 / 16140 |
0% |
| Total MAF |
2 / 120444 |
0.00166% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 24910 |
0.00803% |
| America/Latino |
0 / 34966 |
0% |
| Ashkenazi Jewish |
0 / 10310 |
0% |
| East Asian |
0 / 19818 |
0% |
| Finnish |
0 / 25104 |
0% |
| Non-Finnish |
1 / 128612 |
0.000778% |
| Other |
0 / 7178 |
0% |
| South Asian |
0 / 30032 |
0% |
| Korean |
0 / 3798 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14308 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 4820 |
0% |
| North-Western European |
0 / 50460 |
0% |
| Southern European |
0 / 11572 |
0% |
| Swedish |
0 / 26116 |
0% |
| Other non-Finnish European |
1 / 32976 |
0.00303% |
| Total MAF |
3 / 280930 |
0.00107% |
Export Variant