rs17826681

Variant names:

• chr8-57853913-A-G
• rs17826681

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 0.0903 in 152,078 control chromosomes in the GnomAD database, including 780 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 0.090 (780 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.366
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.126 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: 0.0904 AC: 13730 AN: 151960 Hom.: 780 Cov.: 32

Gnomad AFR AF: 0.0396

Gnomad AMI AF: 0.0526

Gnomad AMR AF: 0.0599

Gnomad ASJ AF: 0.134

Gnomad EAS AF: 0.00193

Gnomad SAS AF: 0.0630

Gnomad FIN AF: 0.134

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.128

Gnomad OTH AF: 0.0851

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

GnomAD4 genome AF: 0.0903 AC: 13739 AN: 152078 Hom.: 780 Cov.: 32 AF XY: 0.0892 AC XY: 6633 AN XY: 74330

African (AFR) AF: 0.0400 AC: 1660 AN: 41514

American (AMR) AF: 0.0599 AC: 915 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.134 AC: 465 AN: 3466

East Asian (EAS) AF: 0.00193 AC: 10 AN: 5174

South Asian (SAS) AF: 0.0629 AC: 303 AN: 4818

European-Finnish (FIN) AF: 0.134 AC: 1413 AN: 10546

Middle Eastern (MID) AF: 0.0850 AC: 25 AN: 294

European-Non Finnish (NFE) AF: 0.128 AC: 8722 AN: 67956

Other (OTH) AF: 0.0842 AC: 178 AN: 2114

Alfa AF: 0.113 Hom.: 2593

Bravo AF: 0.0826

Asia WGS AF: 0.0360 AC: 125 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.8
DANN	Benign	0.78
PhyloP100		0.37

Splicing

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

Other links and lift over

dbSNP: rs17826681; hg19: chr8-58766472;