rs1808192

Positions:

• 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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;