rs8080623

chr17-78926196-G-Achr17-78926196-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;