rs8127220

Variant names:

• chr21-17409363-G-A
• rs8127220

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 0.129 in 152,114 control chromosomes in the GnomAD database, including 2,347 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 0.13 (2347 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0690

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 = 0.318 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: 0.129 AC: 19549 AN: 151996 Hom.: 2334 Cov.: 32

Gnomad AFR AF: 0.322

Gnomad AMI AF: 0.0219

Gnomad AMR AF: 0.0692

Gnomad ASJ AF: 0.0282

Gnomad EAS AF: 0.0488

Gnomad SAS AF: 0.0147

Gnomad FIN AF: 0.0513

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.0587

Gnomad OTH AF: 0.102

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

GnomAD4 genome AF: 0.129 AC: 19606 AN: 152114 Hom.: 2347 Cov.: 32 AF XY: 0.125 AC XY: 9262 AN XY: 74386

Gnomad4 AFR AF: 0.322

Gnomad4 AMR AF: 0.0691

Gnomad4 ASJ AF: 0.0282

Gnomad4 EAS AF: 0.0491

Gnomad4 SAS AF: 0.0145

Gnomad4 FIN AF: 0.0513

Gnomad4 NFE AF: 0.0587

Gnomad4 OTH AF: 0.101

Alfa AF: 0.0703 Hom.: 719

Bravo AF: 0.142

Asia WGS AF: 0.0400 AC: 138 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	2.9
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8127220; hg19: chr21-18781682;