21-26833110-C-G

Variant names:

• chr21-26833110-C-G
• rs229038

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 0.895 in 152,260 control chromosomes in the GnomAD database, including 61,688 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 0.89 (61688 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.798
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.953 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.895 AC: 136123 AN: 152142 Hom.: 61629 Cov.: 33

Gnomad AFR AF: 0.842

Gnomad AMI AF: 0.942

Gnomad AMR AF: 0.891

Gnomad ASJ AF: 0.925

Gnomad EAS AF: 0.472

Gnomad SAS AF: 0.882

Gnomad FIN AF: 0.893

Gnomad MID AF: 0.921

Gnomad NFE AF: 0.959

Gnomad OTH AF: 0.873

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

GnomAD4 genome AF: 0.895 AC: 136237 AN: 152260 Hom.: 61688 Cov.: 33 AF XY: 0.889 AC XY: 66153 AN XY: 74438

African (AFR) AF: 0.842 AC: 34985 AN: 41544

American (AMR) AF: 0.891 AC: 13637 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.925 AC: 3213 AN: 3472

East Asian (EAS) AF: 0.472 AC: 2435 AN: 5158

South Asian (SAS) AF: 0.883 AC: 4254 AN: 4818

European-Finnish (FIN) AF: 0.893 AC: 9477 AN: 10614

Middle Eastern (MID) AF: 0.915 AC: 269 AN: 294

European-Non Finnish (NFE) AF: 0.959 AC: 65261 AN: 68030

Other (OTH) AF: 0.874 AC: 1847 AN: 2114

Alfa AF: 0.932 Hom.: 8223

Bravo AF: 0.892

Asia WGS AF: 0.711 AC: 2472 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.86
DANN	Benign	0.46
PhyloP100		-0.80

Splicing

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

Other links and lift over

dbSNP: rs229038; hg19: chr21-28205429;