rs10493174

Positions:

• chr1-53572863-C-A
• chr1-53572863-C-T

Variant summary

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

The NM_001367484.1(GLIS1):​c.1320+21245G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.146 in 152,266 control chromosomes in the GnomAD database, including 2,023 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 0.15 (2023 hom., cov: 32)
• Consequence: GLIS1 NM_001367484.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0520

Genes affected

GLIS1 (HGNC:29525): (GLIS family zinc finger 1) GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.207 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
GLIS1	NM_001367484.1	c.1320+21245G>T		intron_variant		ENST00000628545.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
GLIS1	ENST00000628545.2	c.1320+21245G>T		intron_variant		5	NM_001367484.1	P2
GLIS1	ENST00000312233.4	c.795+21245G>T		intron_variant		2		A2

Frequencies

GnomAD3 genomes AF: 0.146 AC: 22250 AN: 152148 Hom.: 2023 Cov.: 32

Gnomad AFR AF: 0.0473

Gnomad AMI AF: 0.160

Gnomad AMR AF: 0.0981

Gnomad ASJ AF: 0.264

Gnomad EAS AF: 0.108

Gnomad SAS AF: 0.173

Gnomad FIN AF: 0.159

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.166

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.146 AC: 22255 AN: 152266 Hom.: 2023 Cov.: 32 AF XY: 0.142 AC XY: 10596 AN XY: 74456

Gnomad4 AFR AF: 0.0473

Gnomad4 AMR AF: 0.0979

Gnomad4 ASJ AF: 0.264

Gnomad4 EAS AF: 0.109

Gnomad4 SAS AF: 0.173

Gnomad4 FIN AF: 0.159

Gnomad4 NFE AF: 0.210

Gnomad4 OTH AF: 0.164

Alfa AF: 0.187 Hom.: 2822

Bravo AF: 0.133

Asia WGS AF: 0.108 AC: 377 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.4
DANN	Benign	0.38

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		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: rs10493174; hg19: chr1-54038536;