17-34337353-G-A

Position:

• chr17-34337353-G-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 0.163 in 151,836 control chromosomes in the GnomAD database, including 2,495 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 0.16 (2495 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.226

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.356 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: 0.163 AC: 24712 AN: 151718 Hom.: 2487 Cov.: 32

Gnomad AFR AF: 0.0647

Gnomad AMI AF: 0.165

Gnomad AMR AF: 0.262

Gnomad ASJ AF: 0.183

Gnomad EAS AF: 0.299

Gnomad SAS AF: 0.370

Gnomad FIN AF: 0.156

Gnomad MID AF: 0.177

Gnomad NFE AF: 0.175

Gnomad OTH AF: 0.174

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

GnomAD4 genome AF: 0.163 AC: 24749 AN: 151836 Hom.: 2495 Cov.: 32 AF XY: 0.169 AC XY: 12509 AN XY: 74162

Gnomad4 AFR AF: 0.0648

Gnomad4 AMR AF: 0.262

Gnomad4 ASJ AF: 0.183

Gnomad4 EAS AF: 0.298

Gnomad4 SAS AF: 0.370

Gnomad4 FIN AF: 0.156

Gnomad4 NFE AF: 0.175

Gnomad4 OTH AF: 0.180

Alfa AF: 0.0756 Hom.: 107

Bravo AF: 0.165

Asia WGS AF: 0.304 AC: 1054 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	2.3
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2339001; hg19: chr17-32664372;