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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.834 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

Gnomad4 AFR AF: 0.871

Gnomad4 AMR AF: 0.806

Gnomad4 ASJ AF: 0.850

Gnomad4 EAS AF: 0.656

Gnomad4 SAS AF: 0.838

Gnomad4 FIN AF: 0.848

Gnomad4 NFE AF: 0.831

Gnomad4 OTH AF: 0.807

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs183106; hg19: chr21-29139074;