rs8082305

Variant names:

• chr17-31779568-G-A
• rs8082305

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 0.153 in 151,726 control chromosomes in the GnomAD database, including 1,886 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 0.15 (1886 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.229

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.171 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: 0.153 AC: 23125 AN: 151608 Hom.: 1884 Cov.: 32

Gnomad AFR AF: 0.174

Gnomad AMI AF: 0.0419

Gnomad AMR AF: 0.0943

Gnomad ASJ AF: 0.153

Gnomad EAS AF: 0.146

Gnomad SAS AF: 0.0741

Gnomad FIN AF: 0.203

Gnomad MID AF: 0.0949

Gnomad NFE AF: 0.152

Gnomad OTH AF: 0.149

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

GnomAD4 genome AF: 0.153 AC: 23145 AN: 151726 Hom.: 1886 Cov.: 32 AF XY: 0.152 AC XY: 11264 AN XY: 74158

Gnomad4 AFR AF: 0.174

Gnomad4 AMR AF: 0.0942

Gnomad4 ASJ AF: 0.153

Gnomad4 EAS AF: 0.146

Gnomad4 SAS AF: 0.0738

Gnomad4 FIN AF: 0.203

Gnomad4 NFE AF: 0.152

Gnomad4 OTH AF: 0.153

Alfa AF: 0.149 Hom.: 418

Bravo AF: 0.150

Asia WGS AF: 0.135 AC: 469 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	14
DANN	Benign	0.83

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8082305; hg19: chr17-30106587;