rs8080623

Variant names:

• chr17-78926196-G-A
• rs8080623

Your query was ambiguous. Multiple possible variants found:

• chr17-78926196-G-A
• chr17-78926196-G-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 0.843 in 152,080 control chromosomes in the GnomAD database, including 55,420 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 0.84 (55420 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.482

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.934 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: 0.843 AC: 128085 AN: 151962 Hom.: 55402 Cov.: 31

Gnomad AFR AF: 0.633

Gnomad AMI AF: 0.996

Gnomad AMR AF: 0.927

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.762

Gnomad SAS AF: 0.787

Gnomad FIN AF: 0.932

Gnomad MID AF: 0.880

Gnomad NFE AF: 0.940

Gnomad OTH AF: 0.861

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

GnomAD4 genome AF: 0.843 AC: 128146 AN: 152080 Hom.: 55420 Cov.: 31 AF XY: 0.842 AC XY: 62591 AN XY: 74342

Gnomad4 AFR AF: 0.633

Gnomad4 AMR AF: 0.927

Gnomad4 ASJ AF: 0.941

Gnomad4 EAS AF: 0.761

Gnomad4 SAS AF: 0.788

Gnomad4 FIN AF: 0.932

Gnomad4 NFE AF: 0.940

Gnomad4 OTH AF: 0.853

Alfa AF: 0.851 Hom.: 7048

Bravo AF: 0.836

Asia WGS AF: 0.749 AC: 2603 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	7.2
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8080623; hg19: chr17-76922278;