Classification
Category 4
curation
CMH MAF
91 /
14969 samples
(0.608%)
90 het.,
1 hom.
(98.9%)
92 /
29938 total alleles
(0.307%)
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.10702G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 10742
CDS pos: 10702
translation impact: non_synonymous
protein sequence:
NP_005520.4
AA pos: 3568
hgvs_p: NP_005520.4:p.Val3568Ile
blosum: 3
PolyPhen2: probably_damaging (0.999)
dbSNP
rs115616224
GMAF = 0.008986
TOPMED_MAF = 0.00989105504587155
ClinVar
446053
clinvar_significance = Benign_Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000465,0.029732,0.010380
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
275 / 10362 |
2.65% |
| America/Latino |
18 / 11548 |
0.156% |
| East Asian |
0 / 8630 |
0% |
| Finnish |
0 / 6602 |
0% |
| Non-Finnish |
39 / 66496 |
0.0587% |
| Other |
2 / 898 |
0.223% |
| South Asian |
0 / 16506 |
0% |
| Total MAF |
334 / 121042 |
0.276% |
COSMIC
COSMIC Mutation ID = COSV65933142
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
692 / 24964 |
2.77% |
| America/Latino |
56 / 35440 |
0.158% |
| Ashkenazi Jewish |
41 / 10366 |
0.396% |
| East Asian |
1 / 19946 |
0.00501% |
| Finnish |
0 / 25120 |
0% |
| Non-Finnish |
46 / 128942 |
0.0357% |
| Other |
12 / 7222 |
0.166% |
| South Asian |
1 / 30616 |
0.00327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
1 / 14418 |
0.00694% |
| Bulgarian |
1 / 2666 |
0.0375% |
| Estonian |
0 / 4828 |
0% |
| North-Western European |
10 / 50634 |
0.0197% |
| Southern European |
16 / 11600 |
0.138% |
| Swedish |
2 / 26130 |
0.00765% |
| Other non-Finnish European |
17 / 33084 |
0.0514% |
| Total MAF |
849 / 282616 |
0.3% |
curated_classification = 4
Export Variant