Classification
Category 3
polypyrimidine_tract
CMH MAF
2 /
6955 samples
(0.0288%)
2 het.,
0 hom.
(100%)
2 /
13910 total alleles
(0.0144%)
Genes
gene: AMPD2
synonym(s): AMPD2, ENSG00000116337
NM_001257360.1
[intron]
Reportable
hgvs_c: NM_001257360.1:c.1243-8C>A
splice impact: polypyrimidine_tract
protein sequence:
NP_001244289.1
NM_001257361.1
[intron]
hgvs_c: NM_001257361.1:c.889-8C>A
protein sequence:
NP_001244290.1
NM_004037.7
[intron]
hgvs_c: NM_004037.7:c.1243-8C>A
protein sequence:
NP_004028.3
NM_139156.3
[intron]
hgvs_c: NM_139156.3:c.1000-8C>A
protein sequence:
NP_631895.1
NM_203404.1
[intron]
hgvs_c: NM_203404.1:c.886-8C>A
protein sequence:
NP_981949.1
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs145268448
GMAF = 0.000599
TOPMED_MAF = 0.00045393730886850
ClinVar
235369
clinvar_significance = Uncertain_significance
clinvar_submission_scv = SCV000280905.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000681,0.000231
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
20 / 10334 |
0.194% |
| America/Latino |
0 / 11532 |
0% |
| East Asian |
0 / 8632 |
0% |
| Finnish |
0 / 6594 |
0% |
| Non-Finnish |
0 / 65870 |
0% |
| Other |
0 / 888 |
0% |
| South Asian |
0 / 14996 |
0% |
| Total MAF |
20 / 118846 |
0.0168% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
37 / 24012 |
0.154% |
| America/Latino |
3 / 34352 |
0.00873% |
| Ashkenazi Jewish |
0 / 9964 |
0% |
| East Asian |
0 / 18858 |
0% |
| Finnish |
0 / 25686 |
0% |
| Non-Finnish |
1 / 125424 |
0.000797% |
| Other |
2 / 6422 |
0.0311% |
| South Asian |
0 / 30538 |
0% |
| Total MAF |
43 / 275256 |
0.0156% |
Export Variant