Classification
Category 3
non_synonymous
CMH MAF
1 /
14969 samples
(0.00668%)
1 het.,
0 hom.
(100%)
1 /
29938 total alleles
(0.00334%)
Genes
gene: ERCC6
synonym(s): ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1, ERCC6, ENSG00000225830
NM_000124.3
[CDS]
Reportable
hgvs_c: NM_000124.3:c.3643G>A
reference AA: A
variant AA: T
reference codon: Gcc
variant codon: Acc
cDNA pos: 3819
CDS pos: 3643
translation impact: non_synonymous
protein sequence:
NP_000115.1
AA pos: 1215
hgvs_p: NP_000115.1:p.Ala1215Thr
blosum: 0
SIFT: tolerated (0.06)
PolyPhen2: possibly_damaging (0.578)
dbSNP
rs377041857
TOPMED_MAF = 0.00006371049949031
ClinVar
235487
clinvar_significance = Uncertain_significance
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000233,0.000000,0.000154
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10404 |
0% |
| America/Latino |
0 / 11578 |
0% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
4 / 66734 |
0.00599% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
4 / 121402 |
0.00329% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 24968 |
0.00401% |
| America/Latino |
0 / 35420 |
0% |
| Ashkenazi Jewish |
0 / 10368 |
0% |
| East Asian |
0 / 19954 |
0% |
| Finnish |
0 / 25118 |
0% |
| Non-Finnish |
8 / 129130 |
0.0062% |
| Other |
0 / 7214 |
0% |
| South Asian |
0 / 30596 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 4836 |
0% |
| North-Western European |
3 / 50786 |
0.00591% |
| Southern European |
1 / 11604 |
0.00862% |
| Swedish |
1 / 26134 |
0.00383% |
| Other non-Finnish European |
3 / 33102 |
0.00906% |
| Total MAF |
9 / 282768 |
0.00318% |
Export Variant