rs2410182

Variant names:

• chr21-39808149-A-G
• rs2410182

Your query was ambiguous. Multiple possible variants found:

• chr21-39808149-A-G
• chr21-39808149-A-T

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 0.711 in 151,868 control chromosomes in the GnomAD database, including 40,030 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 0.71 (40030 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.44

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 = 0.904 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: 0.710 AC: 107809 AN: 151750 Hom.: 39966 Cov.: 31

Gnomad AFR AF: 0.912

Gnomad AMI AF: 0.613

Gnomad AMR AF: 0.751

Gnomad ASJ AF: 0.647

Gnomad EAS AF: 0.874

Gnomad SAS AF: 0.829

Gnomad FIN AF: 0.584

Gnomad MID AF: 0.686

Gnomad NFE AF: 0.582

Gnomad OTH AF: 0.719

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

GnomAD4 genome AF: 0.711 AC: 107935 AN: 151868 Hom.: 40030 Cov.: 31 AF XY: 0.714 AC XY: 52995 AN XY: 74204

Gnomad4 AFR AF: 0.912

Gnomad4 AMR AF: 0.752

Gnomad4 ASJ AF: 0.647

Gnomad4 EAS AF: 0.874

Gnomad4 SAS AF: 0.828

Gnomad4 FIN AF: 0.584

Gnomad4 NFE AF: 0.582

Gnomad4 OTH AF: 0.721

Alfa AF: 0.620 Hom.: 13406

Bravo AF: 0.731

Asia WGS AF: 0.865 AC: 3007 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	1.2
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2410182; hg19: chr21-41180076;