rs461626

Variant names:

• chr21-26305471-G-A
• rs461626

Your query was ambiguous. Multiple possible variants found:

• chr21-26305471-G-A
• chr21-26305471-G-C
• chr21-26305471-G-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 0.844 in 152,206 control chromosomes in the GnomAD database, including 54,374 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 0.84 (54374 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.383

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.879 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: 0.844 AC: 128413 AN: 152088 Hom.: 54323 Cov.: 32

Gnomad AFR AF: 0.828

Gnomad AMI AF: 0.898

Gnomad AMR AF: 0.891

Gnomad ASJ AF: 0.912

Gnomad EAS AF: 0.726

Gnomad SAS AF: 0.887

Gnomad FIN AF: 0.875

Gnomad MID AF: 0.940

Gnomad NFE AF: 0.840

Gnomad OTH AF: 0.853

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

GnomAD4 genome AF: 0.844 AC: 128520 AN: 152206 Hom.: 54374 Cov.: 32 AF XY: 0.847 AC XY: 63049 AN XY: 74402

Gnomad4 AFR AF: 0.828

Gnomad4 AMR AF: 0.892

Gnomad4 ASJ AF: 0.912

Gnomad4 EAS AF: 0.725

Gnomad4 SAS AF: 0.887

Gnomad4 FIN AF: 0.875

Gnomad4 NFE AF: 0.840

Gnomad4 OTH AF: 0.854

Alfa AF: 0.846 Hom.: 15202

Bravo AF: 0.844

Asia WGS AF: 0.836 AC: 2908 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.17
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs461626; hg19: chr21-27677790;