rs8068707

Variant names:

• chr17-65319878-T-C
• rs8068707

Your query was ambiguous. Multiple possible variants found:

• chr17-65319878-T-C
• chr17-65319878-T-G

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 0.267 in 152,094 control chromosomes in the GnomAD database, including 6,249 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 0.27 (6249 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.364

ACMG classification

Verdict is Benign. Variant got -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 = 0.396 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: 0.267 AC: 40602 AN: 151976 Hom.: 6232 Cov.: 32

Gnomad AFR AF: 0.371

Gnomad AMI AF: 0.185

Gnomad AMR AF: 0.404

Gnomad ASJ AF: 0.271

Gnomad EAS AF: 0.352

Gnomad SAS AF: 0.208

Gnomad FIN AF: 0.164

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.188

Gnomad OTH AF: 0.248

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

GnomAD4 genome AF: 0.267 AC: 40658 AN: 152094 Hom.: 6249 Cov.: 32 AF XY: 0.268 AC XY: 19947 AN XY: 74348

Gnomad4 AFR AF: 0.372

Gnomad4 AMR AF: 0.405

Gnomad4 ASJ AF: 0.271

Gnomad4 EAS AF: 0.351

Gnomad4 SAS AF: 0.206

Gnomad4 FIN AF: 0.164

Gnomad4 NFE AF: 0.188

Gnomad4 OTH AF: 0.246

Alfa AF: 0.212 Hom.: 7936

Bravo AF: 0.294

Asia WGS AF: 0.284 AC: 987 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	1.4
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8068707; hg19: chr17-63315996;