rs17088251

Positions:

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

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 0.1 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.244

Gnomad4 AMR AF: 0.0620

Gnomad4 ASJ AF: 0.0801

Gnomad4 EAS AF: 0.00116

Gnomad4 SAS AF: 0.141

Gnomad4 FIN AF: 0.0229

Gnomad4 NFE AF: 0.0392

Gnomad4 OTH AF: 0.105

Alfa AF: 0.0509 Hom.: 195

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17088251; hg19: chr8-26523602;