17-34290568-A-G

Position:

• chr17-34290568-A-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 0.401 in 151,988 control chromosomes in the GnomAD database, including 12,501 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 0.40 (12501 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.19

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.445 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.401 AC: 60898 AN: 151870 Hom.: 12488 Cov.: 31

Gnomad AFR AF: 0.338

Gnomad AMI AF: 0.276

Gnomad AMR AF: 0.337

Gnomad ASJ AF: 0.465

Gnomad EAS AF: 0.363

Gnomad SAS AF: 0.463

Gnomad FIN AF: 0.431

Gnomad MID AF: 0.357

Gnomad NFE AF: 0.446

Gnomad OTH AF: 0.397

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

GnomAD4 genome AF: 0.401 AC: 60943 AN: 151988 Hom.: 12501 Cov.: 31 AF XY: 0.401 AC XY: 29768 AN XY: 74284

Gnomad4 AFR AF: 0.338

Gnomad4 AMR AF: 0.336

Gnomad4 ASJ AF: 0.465

Gnomad4 EAS AF: 0.362

Gnomad4 SAS AF: 0.461

Gnomad4 FIN AF: 0.431

Gnomad4 NFE AF: 0.446

Gnomad4 OTH AF: 0.400

Alfa AF: 0.425 Hom.: 19121

Bravo AF: 0.387

Asia WGS AF: 0.421 AC: 1464 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.051
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1860181; hg19: chr17-32617587;