rs183106

Variant names:

• chr21-27766755-T-A
• rs183106

Your query was ambiguous. Multiple possible variants found:

• chr21-27766755-T-A
• chr21-27766755-T-C
• chr21-27766755-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.834 in 152,030 control chromosomes in the GnomAD database, including 53,065 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 0.83 (53065 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.154
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.864 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.834 AC: 126690 AN: 151912 Hom.: 53004 Cov.: 31

Gnomad AFR AF: 0.871

Gnomad AMI AF: 0.716

Gnomad AMR AF: 0.806

Gnomad ASJ AF: 0.850

Gnomad EAS AF: 0.657

Gnomad SAS AF: 0.837

Gnomad FIN AF: 0.848

Gnomad MID AF: 0.722

Gnomad NFE AF: 0.831

Gnomad OTH AF: 0.805

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

GnomAD4 genome AF: 0.834 AC: 126813 AN: 152030 Hom.: 53065 Cov.: 31 AF XY: 0.833 AC XY: 61913 AN XY: 74298

African (AFR) AF: 0.871 AC: 36148 AN: 41482

American (AMR) AF: 0.806 AC: 12296 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.850 AC: 2950 AN: 3470

East Asian (EAS) AF: 0.656 AC: 3375 AN: 5144

South Asian (SAS) AF: 0.838 AC: 4034 AN: 4814

European-Finnish (FIN) AF: 0.848 AC: 8967 AN: 10576

Middle Eastern (MID) AF: 0.731 AC: 215 AN: 294

European-Non Finnish (NFE) AF: 0.831 AC: 56473 AN: 67980

Other (OTH) AF: 0.807 AC: 1702 AN: 2108

Alfa AF: 0.842 Hom.: 6703

Bravo AF: 0.826

Asia WGS AF: 0.781 AC: 2718 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.73
PhyloP100		-0.15

Splicing

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

Other links and lift over

dbSNP: rs183106; hg19: chr21-29139074;