rs17369174

Variant names:

• chr8-75053812-T-G
• rs17369174

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 0.0632 in 152,230 control chromosomes in the GnomAD database, including 342 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 0.063 (342 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.678
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.077 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: 0.0632 AC: 9619 AN: 152114 Hom.: 338 Cov.: 32

Gnomad AFR AF: 0.0592

Gnomad AMI AF: 0.0471

Gnomad AMR AF: 0.0441

Gnomad ASJ AF: 0.105

Gnomad EAS AF: 0.00386

Gnomad SAS AF: 0.0844

Gnomad FIN AF: 0.0677

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.0706

Gnomad OTH AF: 0.0607

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

GnomAD4 genome AF: 0.0632 AC: 9625 AN: 152230 Hom.: 342 Cov.: 32 AF XY: 0.0632 AC XY: 4707 AN XY: 74426

African (AFR) AF: 0.0593 AC: 2464 AN: 41538

American (AMR) AF: 0.0441 AC: 673 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.105 AC: 363 AN: 3466

East Asian (EAS) AF: 0.00386 AC: 20 AN: 5176

South Asian (SAS) AF: 0.0837 AC: 404 AN: 4828

European-Finnish (FIN) AF: 0.0677 AC: 718 AN: 10608

Middle Eastern (MID) AF: 0.0476 AC: 14 AN: 294

European-Non Finnish (NFE) AF: 0.0706 AC: 4801 AN: 68020

Other (OTH) AF: 0.0591 AC: 125 AN: 2114

Alfa AF: 0.0744 Hom.: 64

Bravo AF: 0.0594

Asia WGS AF: 0.0390 AC: 134 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.39
DANN	Benign	0.45
PhyloP100		-0.68

Splicing

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

Other links and lift over

dbSNP: rs17369174; hg19: chr8-75966047;