Classification
Category 3
loss_of_initiation
CMH MAF
3 /
13144 samples
(0.0228%)
3 het.,
0 hom.
(100%)
3 /
26288 total alleles
(0.0114%)
Genes
gene: TSEN15
synonym(s): C1orf19, sen15, TSEN15, ENSG00000198860
NM_001127394.2
[CDS]
hgvs_c: NM_001127394.2:c.1A>G
reference AA: M
variant AA: V
reference codon: Atg
variant codon: Gtg
cDNA pos: 80
CDS pos: 1
translation impact: loss_of_initiation
protein sequence:
NP_001120866.1
AA pos: 1
hgvs_p: NP_001120866.1:p.Met1?
blosum: 1
SIFT: deleterious_low_confidence (0.0)
PolyPhen2: possibly_damaging (0.678)
NM_052965.2
[CDS]
Reportable
hgvs_c: NM_052965.2:c.1A>G
reference AA: M
variant AA: V
reference codon: Atg
variant codon: Gtg
cDNA pos: 80
CDS pos: 1
translation impact: loss_of_initiation
protein sequence:
NP_443197.1
AA pos: 1
hgvs_p: NP_443197.1:p.Met1?
blosum: 1
SIFT: deleterious_low_confidence (0.0)
PolyPhen2: possibly_damaging (0.678)
NR_023349.1
[exon]
hgvs_c: NR_023349.1:n.80A>G
cDNA pos: 80
dbSNP
rs1246351569
TOPMED_MAF = 0.00003185524974515
gnomAD
gnomAD
Source: Genome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 8678 |
0% |
| America/Latino |
0 / 846 |
0% |
| Ashkenazi Jewish |
0 / 290 |
0% |
| East Asian |
0 / 1556 |
0% |
| Finnish |
0 / 3464 |
0% |
| Non-Finnish |
1 / 15416 |
0.00649% |
| Other |
0 / 1086 |
0% |
| Estonian |
0 / 4576 |
0% |
| North-Western European |
1 / 8596 |
0.0116% |
| Southern European |
0 / 106 |
0% |
| Other non-Finnish European |
0 / 2138 |
0% |
| Total MAF |
1 / 31336 |
0.00319% |
Export Variant