rs2023794

Variant names:

• chr17-43760292-T-C
• rs2023794

Your query was ambiguous. Multiple possible variants found:

• chr17-43760292-T-C
• chr17-43760292-T-G

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.0609 in 152,274 control chromosomes in the GnomAD database, including 410 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 0.061 (410 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.00

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.44).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.134 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: 0.0610 AC: 9280 AN: 152154 Hom.: 411 Cov.: 32

Gnomad AFR AF: 0.0161

Gnomad AMI AF: 0.0110

Gnomad AMR AF: 0.139

Gnomad ASJ AF: 0.0415

Gnomad EAS AF: 0.0808

Gnomad SAS AF: 0.128

Gnomad FIN AF: 0.0497

Gnomad MID AF: 0.0510

Gnomad NFE AF: 0.0678

Gnomad OTH AF: 0.0664

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

GnomAD4 genome AF: 0.0609 AC: 9281 AN: 152274 Hom.: 410 Cov.: 32 AF XY: 0.0625 AC XY: 4651 AN XY: 74458

Gnomad4 AFR AF: 0.0161

Gnomad4 AMR AF: 0.139

Gnomad4 ASJ AF: 0.0415

Gnomad4 EAS AF: 0.0804

Gnomad4 SAS AF: 0.129

Gnomad4 FIN AF: 0.0497

Gnomad4 NFE AF: 0.0678

Gnomad4 OTH AF: 0.0658

Alfa AF: 0.0695 Hom.: 93

Bravo AF: 0.0663

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.44
CADD	Benign	17
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2023794; hg19: chr17-41837660;