rs17088251

Variant names:

• chr8-26666085-G-A
• rs17088251

Your query was ambiguous. Multiple possible variants found:

• chr8-26666085-G-A
• chr8-26666085-G-C

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 0.1 in 152,148 control chromosomes in the GnomAD database, including 1,457 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 0.10 (1457 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.480
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.24 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: 0.0998 AC: 15175 AN: 152032 Hom.: 1451 Cov.: 31

Gnomad AFR AF: 0.244

Gnomad AMI AF: 0.0154

Gnomad AMR AF: 0.0620

Gnomad ASJ AF: 0.0801

Gnomad EAS AF: 0.00116

Gnomad SAS AF: 0.141

Gnomad FIN AF: 0.0229

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.0392

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.100 AC: 15213 AN: 152148 Hom.: 1457 Cov.: 31 AF XY: 0.0983 AC XY: 7310 AN XY: 74388

African (AFR) AF: 0.244 AC: 10125 AN: 41490

American (AMR) AF: 0.0620 AC: 947 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.0801 AC: 278 AN: 3472

East Asian (EAS) AF: 0.00116 AC: 6 AN: 5176

South Asian (SAS) AF: 0.141 AC: 680 AN: 4818

European-Finnish (FIN) AF: 0.0229 AC: 243 AN: 10590

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.0392 AC: 2663 AN: 68002

Other (OTH) AF: 0.105 AC: 223 AN: 2114

Alfa AF: 0.0528 Hom.: 231

Bravo AF: 0.106

Asia WGS AF: 0.0680 AC: 238 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.5
DANN	Benign	0.29
PhyloP100		-0.48

Splicing

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

Other links and lift over

dbSNP: rs17088251; hg19: chr8-26523602;