8-18048049-A-G

Variant names:

• chr8-18048049-A-G
• rs17126160

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.567 AC: 23511 AN: 41442

American (AMR) AF: 0.397 AC: 6053 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.521 AC: 1807 AN: 3470

East Asian (EAS) AF: 0.156 AC: 808 AN: 5176

South Asian (SAS) AF: 0.346 AC: 1668 AN: 4826

European-Finnish (FIN) AF: 0.566 AC: 5955 AN: 10528

Middle Eastern (MID) AF: 0.615 AC: 177 AN: 288

European-Non Finnish (NFE) AF: 0.598 AC: 40612 AN: 67950

Other (OTH) AF: 0.538 AC: 1132 AN: 2106

Alfa AF: 0.516 Hom.: 7237

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
PhyloP100		0.069

Splicing

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

Other links and lift over

dbSNP: rs17126160; hg19: chr8-17905558;