Classification
Category 3
non_synonymous
CMH MAF
9 /
14969 samples
(0.0601%)
9 het.,
0 hom.
(100%)
9 /
29938 total alleles
(0.0301%)
Genes
gene: TBCE
synonym(s): HRD, KCS, KCS1, pac2, TBCE, ENSG00000116957
NM_001079515.1
[CDS]
hgvs_c: NM_001079515.1:c.253A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 424
CDS pos: 253
translation impact: non_synonymous
protein sequence:
NP_001072983.1
AA pos: 85
hgvs_p: NP_001072983.1:p.Ile85Val
blosum: 3
SIFT: tolerated (1.0)
PolyPhen2: benign (0.001)
NM_003193.3
[CDS]
Reportable
hgvs_c: NM_003193.3:c.253A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 376
CDS pos: 253
translation impact: non_synonymous
protein sequence:
NP_003184.1
AA pos: 85
hgvs_p: NP_003184.1:p.Ile85Val
blosum: 3
SIFT: tolerated (1.0)
PolyPhen2: benign (0.001)
dbSNP
rs143886167
TOPMED_MAF = 0.00026280581039755
ClinVar
282068
clinvar_significance = Uncertain_significance
clinvar_disease = Hypoparathyroidism retardation dysmorphism syndrome
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000581,0.000227,0.000461
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 10348 |
0.00966% |
| America/Latino |
0 / 11564 |
0% |
| East Asian |
0 / 8640 |
0% |
| Finnish |
34 / 6614 |
0.514% |
| Non-Finnish |
73 / 66258 |
0.11% |
| Other |
4 / 900 |
0.444% |
| South Asian |
1 / 16508 |
0.00606% |
| Total MAF |
113 / 120832 |
0.0935% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
5 / 24948 |
0.02% |
| America/Latino |
0 / 35436 |
0% |
| Ashkenazi Jewish |
0 / 10350 |
0% |
| East Asian |
0 / 19946 |
0% |
| Finnish |
139 / 25120 |
0.553% |
| Non-Finnish |
109 / 128920 |
0.0845% |
| Other |
16 / 7218 |
0.222% |
| South Asian |
2 / 30614 |
0.00653% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14418 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
18 / 4828 |
0.373% |
| North-Western European |
20 / 50760 |
0.0394% |
| Southern European |
4 / 11588 |
0.0345% |
| Swedish |
37 / 26108 |
0.142% |
| Other non-Finnish European |
30 / 32968 |
0.091% |
| Total MAF |
271 / 282552 |
0.0959% |
Export Variant