Classification
Category 4
curation
CMH MAF
17 /
13144 samples
(0.129%)
17 het.,
0 hom.
(100%)
17 /
26288 total alleles
(0.0647%)
Genes
gene: CUBN
synonym(s): gp280, IFCR, MGA1, CUBN, ENSG00000107611
NM_001081.3
[CDS]
Reportable
hgvs_c: NM_001081.3:c.8671G>A
reference AA: V
variant AA: I
reference codon: Gtt
variant codon: Att
cDNA pos: 8723
CDS pos: 8671
translation impact: non_synonymous
protein sequence:
NP_001072.2
AA pos: 2891
hgvs_p: NP_001072.2:p.Val2891Ile
blosum: 3
SIFT: tolerated (1.0)
PolyPhen2: benign (0.009)
dbSNP
rs150488625
GMAF = 0.003195
TOPMED_MAF = 0.00040615443425076
ClinVar
299397
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Megaloblastic anemia
clinvar_disease = Megaloblastic anemia due to inborn errors of metabolism
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000465,0.000454,0.000461
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 10404 |
0.0192% |
| America/Latino |
1 / 11576 |
0.00864% |
| East Asian |
9 / 8654 |
0.104% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
31 / 66732 |
0.0465% |
| Other |
4 / 908 |
0.441% |
| South Asian |
209 / 16512 |
1.27% |
| Total MAF |
256 / 121400 |
0.211% |
COSMIC
COSMIC Mutation ID = COSV64718196
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 24962 |
0.00801% |
| America/Latino |
6 / 35440 |
0.0169% |
| Ashkenazi Jewish |
0 / 10368 |
0% |
| East Asian |
15 / 19952 |
0.0752% |
| Finnish |
0 / 25114 |
0% |
| Non-Finnish |
87 / 129178 |
0.0673% |
| Other |
11 / 7224 |
0.152% |
| South Asian |
369 / 30616 |
1.21% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
14 / 14422 |
0.0971% |
| Bulgarian |
4 / 2670 |
0.15% |
| Estonian |
0 / 4830 |
0% |
| North-Western European |
40 / 50804 |
0.0787% |
| Southern European |
6 / 11610 |
0.0517% |
| Swedish |
13 / 26134 |
0.0497% |
| Other non-Finnish European |
24 / 33130 |
0.0724% |
| Total MAF |
490 / 282854 |
0.173% |
curated_classification = 4
Export Variant