chr17-34285321-C-A

Position:

• chr17-34285321-C-A

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 0.149 in 151,792 control chromosomes in the GnomAD database, including 1,771 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 0.15 (1771 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.231

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 (EAS) allele frequency at 95% confidence interval = 0.174 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: 0.149 AC: 22636 AN: 151672 Hom.: 1771 Cov.: 30

Gnomad AFR AF: 0.0910

Gnomad AMI AF: 0.0954

Gnomad AMR AF: 0.145

Gnomad ASJ AF: 0.221

Gnomad EAS AF: 0.182

Gnomad SAS AF: 0.155

Gnomad FIN AF: 0.164

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.177

Gnomad OTH AF: 0.163

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

GnomAD4 genome AF: 0.149 AC: 22628 AN: 151792 Hom.: 1771 Cov.: 30 AF XY: 0.149 AC XY: 11085 AN XY: 74172

Gnomad4 AFR AF: 0.0909

Gnomad4 AMR AF: 0.145

Gnomad4 ASJ AF: 0.221

Gnomad4 EAS AF: 0.181

Gnomad4 SAS AF: 0.154

Gnomad4 FIN AF: 0.164

Gnomad4 NFE AF: 0.177

Gnomad4 OTH AF: 0.162

Alfa AF: 0.171 Hom.: 4768

Bravo AF: 0.146

Asia WGS AF: 0.165 AC: 575 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	1.1
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17735961; hg19: chr17-32612340;