17-35565068-G-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 0.495 in 152,228 control chromosomes in the GnomAD database, including 18,731 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 0.50 (18731 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0980

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.505 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: 0.495 AC: 75347 AN: 152108 Hom.: 18738 Cov.: 34

Gnomad AFR AF: 0.497

Gnomad AMI AF: 0.531

Gnomad AMR AF: 0.514

Gnomad ASJ AF: 0.373

Gnomad EAS AF: 0.518

Gnomad SAS AF: 0.431

Gnomad FIN AF: 0.506

Gnomad MID AF: 0.420

Gnomad NFE AF: 0.498

Gnomad OTH AF: 0.472

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

GnomAD4 genome AF: 0.495 AC: 75358 AN: 152228 Hom.: 18731 Cov.: 34 AF XY: 0.497 AC XY: 37023 AN XY: 74432

Gnomad4 AFR AF: 0.496

Gnomad4 AMR AF: 0.514

Gnomad4 ASJ AF: 0.373

Gnomad4 EAS AF: 0.517

Gnomad4 SAS AF: 0.431

Gnomad4 FIN AF: 0.506

Gnomad4 NFE AF: 0.498

Gnomad4 OTH AF: 0.469

Alfa AF: 0.485 Hom.: 24394

Bravo AF: 0.492

Asia WGS AF: 0.462 AC: 1605 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	1.8
Dann	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs321601; hg19: chr17-33892087;