rs8081523

Variant names:

• chr17-78308429-C-G
• rs8081523

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 0.28 in 150,244 control chromosomes in the GnomAD database, including 6,360 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 0.28 (6360 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.466

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.345 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: 0.280 AC: 42069 AN: 150160 Hom.: 6355 Cov.: 29

Gnomad AFR AF: 0.202

Gnomad AMI AF: 0.337

Gnomad AMR AF: 0.218

Gnomad ASJ AF: 0.226

Gnomad EAS AF: 0.160

Gnomad SAS AF: 0.168

Gnomad FIN AF: 0.355

Gnomad MID AF: 0.208

Gnomad NFE AF: 0.349

Gnomad OTH AF: 0.284

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

GnomAD4 genome AF: 0.280 AC: 42095 AN: 150244 Hom.: 6360 Cov.: 29 AF XY: 0.277 AC XY: 20259 AN XY: 73204

Gnomad4 AFR AF: 0.202

Gnomad4 AMR AF: 0.217

Gnomad4 ASJ AF: 0.226

Gnomad4 EAS AF: 0.160

Gnomad4 SAS AF: 0.171

Gnomad4 FIN AF: 0.355

Gnomad4 NFE AF: 0.349

Gnomad4 OTH AF: 0.283

Alfa AF: 0.307 Hom.: 924

Bravo AF: 0.266

Asia WGS AF: 0.160 AC: 557 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.1
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8081523; hg19: chr17-76304510;