rs845022

Variant names:

• chr21-32626796-T-A
• rs845022

Your query was ambiguous. Multiple possible variants found:

• chr21-32626796-T-A
• chr21-32626796-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 0.556 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.556 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

Gnomad4 AFR AF: 0.685

Gnomad4 AMR AF: 0.514

Gnomad4 ASJ AF: 0.583

Gnomad4 EAS AF: 0.505

Gnomad4 SAS AF: 0.580

Gnomad4 FIN AF: 0.394

Gnomad4 NFE AF: 0.513

Gnomad4 OTH AF: 0.584

Alfa AF: 0.550 Hom.: 2163

Bravo AF: 0.565

Asia WGS AF: 0.560 AC: 1947 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs845022; hg19: chr21-33999106;