rs4793513

Variant names:

• chr17-70922156-G-A
• rs4793513

Your query was ambiguous. Multiple possible variants found:

• chr17-70922156-G-A
• chr17-70922156-G-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 0.191 in 152,060 control chromosomes in the GnomAD database, including 2,941 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 0.19 (2941 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.644

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.236 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: 0.191 AC: 28949 AN: 151942 Hom.: 2940 Cov.: 32

Gnomad AFR AF: 0.240

Gnomad AMI AF: 0.174

Gnomad AMR AF: 0.232

Gnomad ASJ AF: 0.185

Gnomad EAS AF: 0.117

Gnomad SAS AF: 0.134

Gnomad FIN AF: 0.156

Gnomad MID AF: 0.228

Gnomad NFE AF: 0.167

Gnomad OTH AF: 0.184

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

GnomAD4 genome AF: 0.191 AC: 28981 AN: 152060 Hom.: 2941 Cov.: 32 AF XY: 0.190 AC XY: 14133 AN XY: 74340

Gnomad4 AFR AF: 0.240

Gnomad4 AMR AF: 0.232

Gnomad4 ASJ AF: 0.185

Gnomad4 EAS AF: 0.117

Gnomad4 SAS AF: 0.135

Gnomad4 FIN AF: 0.156

Gnomad4 NFE AF: 0.167

Gnomad4 OTH AF: 0.183

Alfa AF: 0.153 Hom.: 902

Bravo AF: 0.201

Asia WGS AF: 0.144 AC: 501 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.15
DANN	Benign	0.44

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4793513; hg19: chr17-68918297;