Classification
Category 4
curation
CMH MAF
97 /
14969 samples
(0.648%)
96 het.,
1 hom.
(99%)
98 /
29938 total alleles
(0.327%)
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 = Benign_Likely_benign
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 |
628 / 24680 |
2.54% |
| America/Latino |
75 / 35312 |
0.212% |
| Ashkenazi Jewish |
1 / 10332 |
0.00968% |
| East Asian |
1 / 19918 |
0.00502% |
| Finnish |
9 / 24368 |
0.0369% |
| Non-Finnish |
44 / 128096 |
0.0343% |
| Other |
21 / 7142 |
0.294% |
| South Asian |
2 / 30608 |
0.00653% |
| Korean |
1 / 3818 |
0.0262% |
| Japanese |
0 / 146 |
0% |
| Other East Asian |
0 / 14398 |
0% |
| Bulgarian |
1 / 2502 |
0.04% |
| Estonian |
0 / 4804 |
0% |
| North-Western European |
9 / 50580 |
0.0178% |
| Southern European |
15 / 11528 |
0.13% |
| Swedish |
7 / 25972 |
0.027% |
| Other non-Finnish European |
12 / 32710 |
0.0367% |
| Total MAF |
781 / 280456 |
0.278% |
curated_classification = 4
Export Variant