rs8182352

Variant names:

• chr17-5651667-T-C
• rs8182352

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 0.438 in 152,114 control chromosomes in the GnomAD database, including 14,827 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 0.44 (14827 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.223
• Publications: 20 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.451 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: 0.438 AC: 66500 AN: 151996 Hom.: 14806 Cov.: 33

Gnomad AFR AF: 0.427

Gnomad AMI AF: 0.616

Gnomad AMR AF: 0.460

Gnomad ASJ AF: 0.509

Gnomad EAS AF: 0.180

Gnomad SAS AF: 0.423

Gnomad FIN AF: 0.434

Gnomad MID AF: 0.503

Gnomad NFE AF: 0.454

Gnomad OTH AF: 0.439

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

GnomAD4 genome AF: 0.438 AC: 66577 AN: 152114 Hom.: 14827 Cov.: 33 AF XY: 0.438 AC XY: 32537 AN XY: 74358

African (AFR) AF: 0.427 AC: 17712 AN: 41472

American (AMR) AF: 0.460 AC: 7026 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.509 AC: 1767 AN: 3470

East Asian (EAS) AF: 0.181 AC: 937 AN: 5172

South Asian (SAS) AF: 0.424 AC: 2048 AN: 4830

European-Finnish (FIN) AF: 0.434 AC: 4603 AN: 10596

Middle Eastern (MID) AF: 0.493 AC: 145 AN: 294

European-Non Finnish (NFE) AF: 0.454 AC: 30837 AN: 67978

Other (OTH) AF: 0.445 AC: 941 AN: 2116

Alfa AF: 0.444 Hom.: 1952

Bravo AF: 0.438

Asia WGS AF: 0.349 AC: 1213 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	8.5
DANN	Benign	0.35
PhyloP100		-0.22

Splicing

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

Other links and lift over

dbSNP: rs8182352; hg19: chr17-5554987;