chr19-10707416-G-A

Variant names:

• chr19-10707416-G-A
• rs892085
• NM_031209.3:c.530+36G>A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_031209.3(QTRT1):​c.530+36G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.562 in 1,611,248 control chromosomes in the GnomAD database, including 256,929 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.59 (26535 hom., cov: 32)
  • Exomes 𝑓: 0.56 (230394 hom.)
• Consequence: QTRT1 NM_031209.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.153

Genes affected

QTRT1 (HGNC:23797): (queuine tRNA-ribosyltransferase catalytic subunit 1) This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.645 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
QTRT1	NM_031209.3	c.530+36G>A		intron_variant	Intron 4 of 9	ENST00000250237.10	NP_112486.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
QTRT1	ENST00000250237.10	c.530+36G>A		intron_variant	Intron 4 of 9	1	NM_031209.3	ENSP00000250237.4

Frequencies

GnomAD3 genomes AF: 0.587 AC: 89144 AN: 151832 Hom.: 26527 Cov.: 32

Gnomad AFR AF: 0.653

Gnomad AMI AF: 0.541

Gnomad AMR AF: 0.595

Gnomad ASJ AF: 0.570

Gnomad EAS AF: 0.325

Gnomad SAS AF: 0.627

Gnomad FIN AF: 0.553

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.571

Gnomad OTH AF: 0.562

GnomAD3 exomes AF: 0.568 AC: 142450 AN: 250786 Hom.: 41304 AF XY: 0.567 AC XY: 76876 AN XY: 135484

Gnomad AFR exome AF: 0.656

Gnomad AMR exome AF: 0.629

Gnomad ASJ exome AF: 0.554

Gnomad EAS exome AF: 0.332

Gnomad SAS exome AF: 0.621

Gnomad FIN exome AF: 0.561

Gnomad NFE exome AF: 0.564

Gnomad OTH exome AF: 0.546

GnomAD4 exome AF: 0.559 AC: 816138 AN: 1459298 Hom.: 230394 Cov.: 32 AF XY: 0.560 AC XY: 406767 AN XY: 726128

Gnomad4 AFR exome AF: 0.642

Gnomad4 AMR exome AF: 0.626

Gnomad4 ASJ exome AF: 0.556

Gnomad4 EAS exome AF: 0.297

Gnomad4 SAS exome AF: 0.621

Gnomad4 FIN exome AF: 0.560

Gnomad4 NFE exome AF: 0.560

Gnomad4 OTH exome AF: 0.549

GnomAD4 genome AF: 0.587 AC: 89184 AN: 151950 Hom.: 26535 Cov.: 32 AF XY: 0.587 AC XY: 43579 AN XY: 74258

Gnomad4 AFR AF: 0.652

Gnomad4 AMR AF: 0.595

Gnomad4 ASJ AF: 0.570

Gnomad4 EAS AF: 0.324

Gnomad4 SAS AF: 0.628

Gnomad4 FIN AF: 0.553

Gnomad4 NFE AF: 0.571

Gnomad4 OTH AF: 0.559

Alfa AF: 0.558 Hom.: 41597

Bravo AF: 0.585

Asia WGS AF: 0.520 AC: 1810 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.8
DANN	Benign	0.54

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs892085; hg19: chr19-10818092; COSMIC: COSV51551574; COSMIC: COSV51551574;