rs10493822

Positions:

• chr1-89063997-A-G

Variant summary

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

The ENST00000370473.5(GBP1):​c.-19-744T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.273 in 152,006 control chromosomes in the GnomAD database, including 5,802 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 0.27 (5802 hom., cov: 31)
• Consequence: GBP1 ENST00000370473.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.44

Genes affected

GBP1 (HGNC:4182): (guanylate binding protein 1) Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008]

LOC105378841 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.289 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GBP1	NM_002053.3	c.-19-744T>C		intron_variant		ENST00000370473.5	NP_002044.2
LOC105378841	XR_947575.3	n.3208-3828A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GBP1	ENST00000370473.5	c.-19-744T>C		intron_variant		1	NM_002053.3	ENSP00000359504	P1

Frequencies

GnomAD3 genomes AF: 0.273 AC: 41434 AN: 151888 Hom.: 5798 Cov.: 31

Gnomad AFR AF: 0.263

Gnomad AMI AF: 0.408

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.352

Gnomad EAS AF: 0.118

Gnomad SAS AF: 0.296

Gnomad FIN AF: 0.175

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.293

Gnomad OTH AF: 0.288

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

GnomAD4 genome AF: 0.273 AC: 41454 AN: 152006 Hom.: 5802 Cov.: 31 AF XY: 0.269 AC XY: 20005 AN XY: 74292

Gnomad4 AFR AF: 0.263

Gnomad4 AMR AF: 0.296

Gnomad4 ASJ AF: 0.352

Gnomad4 EAS AF: 0.118

Gnomad4 SAS AF: 0.296

Gnomad4 FIN AF: 0.175

Gnomad4 NFE AF: 0.293

Gnomad4 OTH AF: 0.287

Alfa AF: 0.303 Hom.: 6748

Bravo AF: 0.282

Asia WGS AF: 0.220 AC: 767 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	11
DANN	Benign	0.72

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: rs10493822; hg19: chr1-89529680;