rs1808192

Variant names:

• chr17-47717340-A-G
• rs1808192

Your query was ambiguous. Multiple possible variants found:

• chr17-47717340-A-G
• chr17-47717340-A-T

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 0.69 in 152,118 control chromosomes in the GnomAD database, including 36,926 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 0.69 (36926 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.898

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.81 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: 0.690 AC: 104830 AN: 152000 Hom.: 36875 Cov.: 32

Gnomad AFR AF: 0.817

Gnomad AMI AF: 0.664

Gnomad AMR AF: 0.574

Gnomad ASJ AF: 0.688

Gnomad EAS AF: 0.681

Gnomad SAS AF: 0.582

Gnomad FIN AF: 0.581

Gnomad MID AF: 0.654

Gnomad NFE AF: 0.664

Gnomad OTH AF: 0.682

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

GnomAD4 genome AF: 0.690 AC: 104933 AN: 152118 Hom.: 36926 Cov.: 32 AF XY: 0.682 AC XY: 50713 AN XY: 74380

Gnomad4 AFR AF: 0.817

Gnomad4 AMR AF: 0.574

Gnomad4 ASJ AF: 0.688

Gnomad4 EAS AF: 0.681

Gnomad4 SAS AF: 0.583

Gnomad4 FIN AF: 0.581

Gnomad4 NFE AF: 0.664

Gnomad4 OTH AF: 0.679

Alfa AF: 0.665 Hom.: 32697

Bravo AF: 0.696

Asia WGS AF: 0.568 AC: 1978 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.2
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: rs1808192; hg19: chr17-45794706;