1:24019079-24019079 G > T

Classification

Category 4

three_prime_flank

CMH MAF

58 / 6916 samples (0.839%)
58 het., 0 hom. (100%)
58 / 13832 total alleles (0.419%)

Genes

Consequences
gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron] Reportable

gene: RPL11 synonym(s): DBA7, GIG34, L11, RPL11, ENSG00000142676

NM_000975.3 [intron] Reportable
hgvs_c: NM_000975.3:c.7-20G>T
splice impact: three_prime_flank
protein sequence: NP_000966.2

NM_001199802.1 [intron]
hgvs_c: NM_001199802.1:c.7-23G>T
protein sequence: NP_001186731.1

dbSNP

rs142110379
GMAF = 0.001797
TOPMED_MAF = 0.00169629204892966

ClinVar

445550
clinvar_significance = Likely_benign

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.001744,0.000454,0.001307

ExAC

ExAC
Ethnicity Count / Number MAF
African 3 / 10376 0.0289%
America/Latino 12 / 11568 0.104%
East Asian 0 / 8646 0%
Finnish 1 / 6612 0.0151%
Non-Finnish 209 / 66630 0.314%
Other 2 / 906 0.221%
South Asian 37 / 16508 0.224%
Total MAF 264 / 121246 0.218%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 8 / 24026 0.0333%
America/Latino 50 / 34418 0.145%
Ashkenazi Jewish 30 / 10150 0.296%
East Asian 0 / 18868 0%
Finnish 5 / 25776 0.0194%
Non-Finnish 384 / 126680 0.303%
Other 17 / 6466 0.263%
South Asian 63 / 30782 0.205%
Total MAF 557 / 277166 0.201%


Export Variant

Curation

Likely Benign