17-35565068-G-T

Variant names:

• chr17-35565068-G-T
• rs321601

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	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

African (AFR) AF: 0.496 AC: 20606 AN: 41524

American (AMR) AF: 0.514 AC: 7866 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.373 AC: 1292 AN: 3468

East Asian (EAS) AF: 0.517 AC: 2676 AN: 5178

South Asian (SAS) AF: 0.431 AC: 2079 AN: 4826

European-Finnish (FIN) AF: 0.506 AC: 5363 AN: 10604

Middle Eastern (MID) AF: 0.408 AC: 120 AN: 294

European-Non Finnish (NFE) AF: 0.498 AC: 33881 AN: 68006

Other (OTH) AF: 0.469 AC: 992 AN: 2116

Alfa AF: 0.485 Hom.: 30611

Bravo AF: 0.492

Asia WGS AF: 0.462 AC: 1605 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.8
DANN	Benign	0.62
PhyloP100		0.098

Splicing

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

Other links and lift over

dbSNP: rs321601; hg19: chr17-33892087;