rs4796217

Variant names:

• chr17-36463349-T-C
• rs4796217

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 0.481 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
• Publications: 31 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.805 AC: 33429 AN: 41504

American (AMR) AF: 0.386 AC: 5908 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.346 AC: 1199 AN: 3466

East Asian (EAS) AF: 0.799 AC: 4128 AN: 5164

South Asian (SAS) AF: 0.566 AC: 2730 AN: 4822

European-Finnish (FIN) AF: 0.416 AC: 4399 AN: 10566

Middle Eastern (MID) AF: 0.456 AC: 134 AN: 294

European-Non Finnish (NFE) AF: 0.293 AC: 19877 AN: 67922

Other (OTH) AF: 0.463 AC: 976 AN: 2110

Alfa AF: 0.360 Hom.: 43463

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
PhyloP100		-0.22

Splicing

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

Other links and lift over

dbSNP: rs4796217; hg19: chr17-34819191;