rs17091905

Variant names:

• chr8-19992246-G-A
• rs17091905

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 0.165 in 152,054 control chromosomes in the GnomAD database, including 2,492 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 0.17 (2492 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0980
• Publications: 33 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.278 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: 0.165 AC: 25086 AN: 151936 Hom.: 2489 Cov.: 32

Gnomad AFR AF: 0.282

Gnomad AMI AF: 0.170

Gnomad AMR AF: 0.119

Gnomad ASJ AF: 0.161

Gnomad EAS AF: 0.109

Gnomad SAS AF: 0.110

Gnomad FIN AF: 0.0988

Gnomad MID AF: 0.184

Gnomad NFE AF: 0.124

Gnomad OTH AF: 0.150

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

GnomAD4 genome AF: 0.165 AC: 25108 AN: 152054 Hom.: 2492 Cov.: 32 AF XY: 0.162 AC XY: 12051 AN XY: 74362

African (AFR) AF: 0.282 AC: 11672 AN: 41406

American (AMR) AF: 0.119 AC: 1819 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.161 AC: 557 AN: 3462

East Asian (EAS) AF: 0.108 AC: 559 AN: 5176

South Asian (SAS) AF: 0.110 AC: 529 AN: 4816

European-Finnish (FIN) AF: 0.0988 AC: 1046 AN: 10590

Middle Eastern (MID) AF: 0.170 AC: 50 AN: 294

European-Non Finnish (NFE) AF: 0.124 AC: 8408 AN: 68006

Other (OTH) AF: 0.149 AC: 313 AN: 2106

Alfa AF: 0.138 Hom.: 6174

Bravo AF: 0.172

Asia WGS AF: 0.127 AC: 443 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.0
DANN	Benign	0.50
PhyloP100		-0.098

Splicing

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

Other links and lift over

dbSNP: rs17091905; hg19: chr8-19849757;