Classification
Category 4
curation
CMH MAF
89 /
14969 samples
(0.595%)
88 het.,
1 hom.
(98.9%)
90 /
29938 total alleles
(0.301%)
Genes
gene: TBCE
synonym(s): HRD, KCS, KCS1, pac2, TBCE, ENSG00000116957
NM_001079515.1
[CDS]
hgvs_c: NM_001079515.1:c.998G>C
reference AA: S
variant AA: T
reference codon: aGt
variant codon: aCt
cDNA pos: 1169
CDS pos: 998
translation impact: non_synonymous
protein sequence:
NP_001072983.1
AA pos: 333
hgvs_p: NP_001072983.1:p.Ser333Thr
blosum: 1
SIFT: tolerated (0.09)
PolyPhen2: benign (0.42)
NM_003193.3
[CDS]
Reportable
hgvs_c: NM_003193.3:c.998G>C
reference AA: S
variant AA: T
reference codon: aGt
variant codon: aCt
cDNA pos: 1121
CDS pos: 998
translation impact: non_synonymous
protein sequence:
NP_003184.1
AA pos: 333
hgvs_p: NP_003184.1:p.Ser333Thr
blosum: 1
SIFT: tolerated (0.09)
PolyPhen2: benign (0.42)
dbSNP
rs35579976
GMAF = 0.01058
TOPMED_MAF = 0.01095820591233435
ClinVar
235262
clinvar_significance = Likely_benign
clinvar_disease = Hypoparathyroidism retardation dysmorphism syndrome
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.027916,0.009534
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
342 / 10406 |
3.29% |
| America/Latino |
28 / 11576 |
0.242% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
3 / 66738 |
0.0045% |
| Other |
0 / 906 |
0% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
373 / 121404 |
0.307% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
870 / 24956 |
3.49% |
| America/Latino |
70 / 35438 |
0.198% |
| Ashkenazi Jewish |
0 / 10370 |
0% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
0 / 25124 |
0% |
| Non-Finnish |
1 / 129178 |
0.000774% |
| Other |
9 / 7228 |
0.125% |
| South Asian |
1 / 30616 |
0.00327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4814 |
0% |
| North-Western European |
0 / 50818 |
0% |
| Southern European |
1 / 11610 |
0.00861% |
| Swedish |
0 / 26134 |
0% |
| Other non-Finnish European |
0 / 33132 |
0% |
| Total MAF |
951 / 282862 |
0.336% |
curated_classification = 4
Export Variant