17-34290568-A-G

Variant names:

• chr17-34290568-A-G
• rs1860181

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 0.401 in 151,988 control chromosomes in the GnomAD database, including 12,501 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 0.40 (12501 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.19
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.445 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: 0.401 AC: 60898 AN: 151870 Hom.: 12488 Cov.: 31

Gnomad AFR AF: 0.338

Gnomad AMI AF: 0.276

Gnomad AMR AF: 0.337

Gnomad ASJ AF: 0.465

Gnomad EAS AF: 0.363

Gnomad SAS AF: 0.463

Gnomad FIN AF: 0.431

Gnomad MID AF: 0.357

Gnomad NFE AF: 0.446

Gnomad OTH AF: 0.397

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

GnomAD4 genome AF: 0.401 AC: 60943 AN: 151988 Hom.: 12501 Cov.: 31 AF XY: 0.401 AC XY: 29768 AN XY: 74284

African (AFR) AF: 0.338 AC: 14018 AN: 41448

American (AMR) AF: 0.336 AC: 5140 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.465 AC: 1613 AN: 3470

East Asian (EAS) AF: 0.362 AC: 1866 AN: 5160

South Asian (SAS) AF: 0.461 AC: 2219 AN: 4810

European-Finnish (FIN) AF: 0.431 AC: 4551 AN: 10558

Middle Eastern (MID) AF: 0.380 AC: 111 AN: 292

European-Non Finnish (NFE) AF: 0.446 AC: 30329 AN: 67938

Other (OTH) AF: 0.400 AC: 844 AN: 2112

Alfa AF: 0.425 Hom.: 24974

Bravo AF: 0.387

Asia WGS AF: 0.421 AC: 1464 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.051
DANN	Benign	0.37
PhyloP100		-2.2

Splicing

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

Other links and lift over

dbSNP: rs1860181; hg19: chr17-32617587;