rs4796217

chr17-36463349-T-C

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 0.481 in 152,048 control chromosomes in the GnomAD database, including 21,541 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 0.48 (21541 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.218

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.798 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: 0.481 AC: 73074 AN: 151930 Hom.: 21482 Cov.: 32

Gnomad AFR AF: 0.805

Gnomad AMI AF: 0.442

Gnomad AMR AF: 0.387

Gnomad ASJ AF: 0.346

Gnomad EAS AF: 0.799

Gnomad SAS AF: 0.566

Gnomad FIN AF: 0.416

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.293

Gnomad OTH AF: 0.459

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

GnomAD4 genome AF: 0.481 AC: 73183 AN: 152048 Hom.: 21541 Cov.: 32 AF XY: 0.490 AC XY: 36435 AN XY: 74324

Gnomad4 AFR AF: 0.805

Gnomad4 AMR AF: 0.386

Gnomad4 ASJ AF: 0.346

Gnomad4 EAS AF: 0.799

Gnomad4 SAS AF: 0.566

Gnomad4 FIN AF: 0.416

Gnomad4 NFE AF: 0.293

Gnomad4 OTH AF: 0.463

Alfa AF: 0.337 Hom.: 15632

Bravo AF: 0.493

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
Cadd	Benign	3.5

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4796217; hg19: chr17-34819191;