rs2833537

Variant names:

• chr21-31841150-G-A
• rs2833537

Your query was ambiguous. Multiple possible variants found:

• chr21-31841150-G-A
• chr21-31841150-G-T

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 0.0809 in 151,732 control chromosomes in the GnomAD database, including 642 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 0.081 (642 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.250
• Publications: 1 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 = 0.142 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: 0.0806 AC: 12225 AN: 151642 Hom.: 635 Cov.: 32

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.197

Gnomad AMR AF: 0.0971

Gnomad ASJ AF: 0.0496

Gnomad EAS AF: 0.0952

Gnomad SAS AF: 0.109

Gnomad FIN AF: 0.0626

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0378

Gnomad OTH AF: 0.0740

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

GnomAD4 genome AF: 0.0809 AC: 12268 AN: 151732 Hom.: 642 Cov.: 32 AF XY: 0.0829 AC XY: 6148 AN XY: 74140

African (AFR) AF: 0.145 AC: 6003 AN: 41368

American (AMR) AF: 0.0978 AC: 1489 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.0496 AC: 172 AN: 3468

East Asian (EAS) AF: 0.0951 AC: 490 AN: 5154

South Asian (SAS) AF: 0.110 AC: 527 AN: 4794

European-Finnish (FIN) AF: 0.0626 AC: 655 AN: 10468

Middle Eastern (MID) AF: 0.0959 AC: 28 AN: 292

European-Non Finnish (NFE) AF: 0.0378 AC: 2568 AN: 67946

Other (OTH) AF: 0.0748 AC: 157 AN: 2100

Alfa AF: 0.0656 Hom.: 381

Bravo AF: 0.0864

Asia WGS AF: 0.125 AC: 433 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.5
DANN	Benign	0.63
PhyloP100		-0.25

Splicing

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

Other links and lift over

dbSNP: rs2833537; hg19: chr21-33213462;