1:22166034-22166034 G > A

Classification

Category 4

curation

CMH MAF

97 / 14969 samples (0.648%)
96 het., 1 hom. (99%)
98 / 29938 total alleles (0.327%)

Genes

Consequences
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

Curation

Likely Benign