rs8068707

chr17-65319878-T-Cchr17-65319878-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;