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: ATF6
synonym(s): ATF6A, ATF6, ENSG00000118217
NM_007348.3
[CDS]
Reportable
hgvs_c: NM_007348.3:c.1946T>G
reference AA: F
variant AA: C
reference codon: tTt
variant codon: tGt
cDNA pos: 2063
CDS pos: 1946
translation impact: non_synonymous
protein sequence:
NP_031374.2
AA pos: 649
hgvs_p: NP_031374.2:p.Phe649Cys
blosum: -2
SIFT: deleterious (0.01)
PolyPhen2: possibly_damaging (0.711)
dbSNP
rs201204499
TOPMED_MAF = 0.00000796381243628
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10404 |
0% |
| America/Latino |
0 / 11576 |
0% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
1 / 66630 |
0.0015% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16388 |
0% |
| Total MAF |
1 / 121174 |
0.000825% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16254 |
0% |
| America/Latino |
0 / 34592 |
0% |
| Ashkenazi Jewish |
0 / 10076 |
0% |
| East Asian |
0 / 18392 |
0% |
| Finnish |
0 / 21644 |
0% |
| Non-Finnish |
1 / 113736 |
0.000879% |
| Other |
0 / 6134 |
0% |
| South Asian |
0 / 30610 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14422 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 42210 |
0% |
| Southern European |
0 / 11502 |
0% |
| Swedish |
0 / 26134 |
0% |
| Other non-Finnish European |
1 / 30978 |
0.00323% |
| Total MAF |
1 / 251438 |
0.000398% |
Export Variant
Curation
Uncertain Significance