rs8068314

Variant names:

• chr17-34247262-A-T
• rs8068314

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 0.103 in 152,328 control chromosomes in the GnomAD database, including 984 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 0.10 (984 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.951

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.174 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: 0.103 AC: 15694 AN: 152210 Hom.: 980 Cov.: 33

Gnomad AFR AF: 0.177

Gnomad AMI AF: 0.0811

Gnomad AMR AF: 0.0739

Gnomad ASJ AF: 0.0521

Gnomad EAS AF: 0.000960

Gnomad SAS AF: 0.0947

Gnomad FIN AF: 0.0662

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.0814

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.103 AC: 15706 AN: 152328 Hom.: 984 Cov.: 33 AF XY: 0.101 AC XY: 7543 AN XY: 74500

Gnomad4 AFR AF: 0.177

Gnomad4 AMR AF: 0.0738

Gnomad4 ASJ AF: 0.0521

Gnomad4 EAS AF: 0.000962

Gnomad4 SAS AF: 0.0946

Gnomad4 FIN AF: 0.0662

Gnomad4 NFE AF: 0.0814

Gnomad4 OTH AF: 0.105

Alfa AF: 0.0924 Hom.: 95

Bravo AF: 0.106

Asia WGS AF: 0.0440 AC: 153 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	4.4
DANN	Benign	0.88

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8068314; hg19: chr17-32574281;