chr21-32626796-T-A

Variant names:

• chr21-32626796-T-A
• rs845022

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 0.556 in 151,926 control chromosomes in the GnomAD database, including 24,126 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 0.56 (24126 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0100
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.679 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.556 AC: 84421 AN: 151808 Hom.: 24101 Cov.: 31

Gnomad AFR AF: 0.685

Gnomad AMI AF: 0.481

Gnomad AMR AF: 0.514

Gnomad ASJ AF: 0.583

Gnomad EAS AF: 0.505

Gnomad SAS AF: 0.580

Gnomad FIN AF: 0.394

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.513

Gnomad OTH AF: 0.581

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

GnomAD4 genome AF: 0.556 AC: 84491 AN: 151926 Hom.: 24126 Cov.: 31 AF XY: 0.553 AC XY: 41048 AN XY: 74234

African (AFR) AF: 0.685 AC: 28402 AN: 41438

American (AMR) AF: 0.514 AC: 7842 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.583 AC: 2022 AN: 3466

East Asian (EAS) AF: 0.505 AC: 2604 AN: 5158

South Asian (SAS) AF: 0.580 AC: 2796 AN: 4824

European-Finnish (FIN) AF: 0.394 AC: 4147 AN: 10528

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.513 AC: 34834 AN: 67940

Other (OTH) AF: 0.584 AC: 1234 AN: 2114

Alfa AF: 0.543 Hom.: 2832

Bravo AF: 0.565

Asia WGS AF: 0.560 AC: 1947 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.8
DANN	Benign	0.51
PhyloP100		0.010

Splicing

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

Other links and lift over

dbSNP: rs845022; hg19: chr21-33999106;