rs17735961

Variant names:

• chr17-34285321-C-A
• rs17735961

Your query was ambiguous. Multiple possible variants found:

• chr17-34285321-C-A
• chr17-34285321-C-T

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;