rs17791051

Variant names:

• chr8-56925736-T-C
• rs17791051

Your query was ambiguous. Multiple possible variants found:

• chr8-56925736-T-C
• chr8-56925736-T-G

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 0.0816 in 151,930 control chromosomes in the GnomAD database, including 545 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 0.082 (545 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.104
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0993 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.0816 AC: 12390 AN: 151812 Hom.: 545 Cov.: 32

Gnomad AFR AF: 0.0591

Gnomad AMI AF: 0.0857

Gnomad AMR AF: 0.0599

Gnomad ASJ AF: 0.0802

Gnomad EAS AF: 0.0695

Gnomad SAS AF: 0.0906

Gnomad FIN AF: 0.0743

Gnomad MID AF: 0.104

Gnomad NFE AF: 0.101

Gnomad OTH AF: 0.0900

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

GnomAD4 genome AF: 0.0816 AC: 12397 AN: 151930 Hom.: 545 Cov.: 32 AF XY: 0.0795 AC XY: 5900 AN XY: 74250

African (AFR) AF: 0.0590 AC: 2448 AN: 41468

American (AMR) AF: 0.0598 AC: 913 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.0802 AC: 278 AN: 3468

East Asian (EAS) AF: 0.0701 AC: 363 AN: 5182

South Asian (SAS) AF: 0.0917 AC: 439 AN: 4786

European-Finnish (FIN) AF: 0.0743 AC: 782 AN: 10528

Middle Eastern (MID) AF: 0.105 AC: 31 AN: 294

European-Non Finnish (NFE) AF: 0.101 AC: 6878 AN: 67910

Other (OTH) AF: 0.0885 AC: 187 AN: 2112

Alfa AF: 0.0957 Hom.: 376

Bravo AF: 0.0799

Asia WGS AF: 0.0760 AC: 262 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.1
DANN	Benign	0.51
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs17791051; hg19: chr8-57838295;