rs8065023

Variant names:

• chr17-50855467-T-C
• rs8065023

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 0.317 in 152,098 control chromosomes in the GnomAD database, including 8,042 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 0.32 (8042 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.528

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.374 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: 0.317 AC: 48170 AN: 151980 Hom.: 8034 Cov.: 32

Gnomad AFR AF: 0.247

Gnomad AMI AF: 0.218

Gnomad AMR AF: 0.291

Gnomad ASJ AF: 0.395

Gnomad EAS AF: 0.0982

Gnomad SAS AF: 0.251

Gnomad FIN AF: 0.350

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.378

Gnomad OTH AF: 0.343

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

GnomAD4 genome AF: 0.317 AC: 48197 AN: 152098 Hom.: 8042 Cov.: 32 AF XY: 0.312 AC XY: 23193 AN XY: 74340

Gnomad4 AFR AF: 0.247

Gnomad4 AMR AF: 0.290

Gnomad4 ASJ AF: 0.395

Gnomad4 EAS AF: 0.0986

Gnomad4 SAS AF: 0.251

Gnomad4 FIN AF: 0.350

Gnomad4 NFE AF: 0.378

Gnomad4 OTH AF: 0.347

Alfa AF: 0.366 Hom.: 10928

Bravo AF: 0.306

Asia WGS AF: 0.214 AC: 743 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	4.7
DANN	Benign	0.31

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8065023; hg19: chr17-48932828;