Classification
Category 4
Common ExAC MAF
original cat: TYPE_3 - non_synonymous
CMH MAF
57 /
8745 samples
(0.652%)
56 het.,
1 hom.
(98.2%)
58 /
17490 total alleles
(0.332%)
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 = 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 = COSM4948854
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
COSMIC Mutation ID = COSM1339040
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
665 / 24032 |
2.77% |
| America/Latino |
50 / 34418 |
0.145% |
| Ashkenazi Jewish |
42 / 10148 |
0.414% |
| East Asian |
1 / 18866 |
0.0053% |
| Finnish |
0 / 25792 |
0% |
| Non-Finnish |
37 / 126476 |
0.0293% |
| Other |
19 / 6464 |
0.294% |
| South Asian |
1 / 30782 |
0.00325% |
| Total MAF |
815 / 276978 |
0.294% |
Export Variant