8-18048049-A-G

Variant names:

• chr8-18048049-A-G
• rs17126160

Variant summary

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

The variant allele was found at a frequency of 0.541 in 151,940 control chromosomes in the GnomAD database, including 23,139 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 0.54 (23139 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0690

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.593 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.542 AC: 82218 AN: 151822 Hom.: 23119 Cov.: 31

Gnomad AFR AF: 0.567

Gnomad AMI AF: 0.605

Gnomad AMR AF: 0.398

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.156

Gnomad SAS AF: 0.346

Gnomad FIN AF: 0.566

Gnomad MID AF: 0.610

Gnomad NFE AF: 0.598

Gnomad OTH AF: 0.536

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

GnomAD4 genome AF: 0.541 AC: 82275 AN: 151940 Hom.: 23139 Cov.: 31 AF XY: 0.530 AC XY: 39328 AN XY: 74252

Gnomad4 AFR AF: 0.567

Gnomad4 AMR AF: 0.397

Gnomad4 ASJ AF: 0.521

Gnomad4 EAS AF: 0.156

Gnomad4 SAS AF: 0.346

Gnomad4 FIN AF: 0.566

Gnomad4 NFE AF: 0.598

Gnomad4 OTH AF: 0.538

Alfa AF: 0.506 Hom.: 3579

Bravo AF: 0.535

Asia WGS AF: 0.313 AC: 1088 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.92
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17126160; hg19: chr8-17905558;