Classification
Category 4
Common ExAC MAF
original cat: TYPE_3 - non_synonymous
CMH MAF
79 /
11422 samples
(0.692%)
79 het.,
0 hom.
(100%)
79 /
22844 total alleles
(0.346%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: HSPG2
synonym(s): HSPG, PLC, PRCAN, SJA, SJS, SJS1, HSPG2, ENSG00000142798
NM_005529.5
[CDS]
Reportable
hgvs_c: NM_005529.5:c.9719C>T
reference AA: A
variant AA: V
reference codon: gCg
variant codon: gTg
cDNA pos: 9759
CDS pos: 9719
translation impact: non_synonymous
protein sequence:
NP_005520.4
AA pos: 3240
hgvs_p: NP_005520.4:p.Ala3240Val
blosum: 0
PolyPhen2: benign (0.036)
dbSNP
rs62642505
GMAF = 0.007388
TOPMED_MAF = 0.00843367737003058
ClinVar
376803
clinvar_significance = Likely_benign
clinvar_submission_scv = SCV000510634.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000349,0.027009,0.009380
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
281 / 9808 |
2.87% |
| America/Latino |
18 / 11146 |
0.161% |
| East Asian |
1 / 8516 |
0.0117% |
| Finnish |
0 / 5374 |
0% |
| Non-Finnish |
28 / 64356 |
0.0435% |
| Other |
2 / 834 |
0.24% |
| South Asian |
1 / 16154 |
0.00619% |
| Total MAF |
331 / 116188 |
0.285% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
604 / 23762 |
2.54% |
| America/Latino |
75 / 34374 |
0.218% |
| Ashkenazi Jewish |
1 / 10120 |
0.00988% |
| East Asian |
1 / 18850 |
0.00531% |
| Finnish |
8 / 25006 |
0.032% |
| Non-Finnish |
41 / 125758 |
0.0326% |
| Other |
23 / 6400 |
0.359% |
| South Asian |
2 / 30774 |
0.0065% |
| Total MAF |
755 / 275044 |
0.275% |
Export Variant