rs17118133

Variant names:

• chr8-13946915-C-G
• rs17118133

Your query was ambiguous. Multiple possible variants found:

• chr8-13946915-C-G
• chr8-13946915-C-T

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 0.192 in 151,928 control chromosomes in the GnomAD database, including 3,043 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 0.19 (3043 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.651
• Publications: 3 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 = 0.26 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: 0.192 AC: 29153 AN: 151808 Hom.: 3036 Cov.: 33

Gnomad AFR AF: 0.264

Gnomad AMI AF: 0.153

Gnomad AMR AF: 0.149

Gnomad ASJ AF: 0.170

Gnomad EAS AF: 0.264

Gnomad SAS AF: 0.0996

Gnomad FIN AF: 0.176

Gnomad MID AF: 0.158

Gnomad NFE AF: 0.163

Gnomad OTH AF: 0.194

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

GnomAD4 genome AF: 0.192 AC: 29190 AN: 151928 Hom.: 3043 Cov.: 33 AF XY: 0.189 AC XY: 14065 AN XY: 74226

African (AFR) AF: 0.264 AC: 10965 AN: 41464

American (AMR) AF: 0.149 AC: 2268 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.170 AC: 589 AN: 3464

East Asian (EAS) AF: 0.263 AC: 1355 AN: 5146

South Asian (SAS) AF: 0.0997 AC: 481 AN: 4826

European-Finnish (FIN) AF: 0.176 AC: 1859 AN: 10550

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

European-Non Finnish (NFE) AF: 0.163 AC: 11077 AN: 67930

Other (OTH) AF: 0.193 AC: 407 AN: 2112

Alfa AF: 0.0856 Hom.: 111

Bravo AF: 0.196

Asia WGS AF: 0.202 AC: 704 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.55
DANN	Benign	0.63
PhyloP100		-0.65

Splicing

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

Other links and lift over

dbSNP: rs17118133; hg19: chr8-13804424;