rs4795893

chr17-34247429-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 0.457 in 151,924 control chromosomes in the GnomAD database, including 16,797 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 0.46 (16797 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.257

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.599 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: 0.457 AC: 69378 AN: 151806 Hom.: 16768 Cov.: 32

Gnomad AFR AF: 0.605

Gnomad AMI AF: 0.221

Gnomad AMR AF: 0.534

Gnomad ASJ AF: 0.369

Gnomad EAS AF: 0.559

Gnomad SAS AF: 0.452

Gnomad FIN AF: 0.412

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.357

Gnomad OTH AF: 0.445

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

GnomAD4 genome AF: 0.457 AC: 69454 AN: 151924 Hom.: 16797 Cov.: 32 AF XY: 0.461 AC XY: 34260 AN XY: 74238

Gnomad4 AFR AF: 0.605

Gnomad4 AMR AF: 0.535

Gnomad4 ASJ AF: 0.369

Gnomad4 EAS AF: 0.560

Gnomad4 SAS AF: 0.453

Gnomad4 FIN AF: 0.412

Gnomad4 NFE AF: 0.357

Gnomad4 OTH AF: 0.443

Alfa AF: 0.378 Hom.: 23021

Bravo AF: 0.473

Asia WGS AF: 0.506 AC: 1758 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.55
Dann	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4795893; hg19: chr17-32574448;