rs914208

Variant names:

• chr21-44988446-T-C
• rs914208

Your query was ambiguous. Multiple possible variants found:

• chr21-44988446-T-C
• chr21-44988446-T-G

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 0.792 in 149,796 control chromosomes in the GnomAD database, including 46,918 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 0.79 (46918 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.656
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.811 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: 0.792 AC: 118579 AN: 149672 Hom.: 46879 Cov.: 33

Gnomad AFR AF: 0.819

Gnomad AMI AF: 0.739

Gnomad AMR AF: 0.808

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.826

Gnomad SAS AF: 0.814

Gnomad FIN AF: 0.783

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.772

Gnomad OTH AF: 0.788

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

GnomAD4 genome AF: 0.792 AC: 118680 AN: 149796 Hom.: 46918 Cov.: 33 AF XY: 0.792 AC XY: 57969 AN XY: 73232

African (AFR) AF: 0.819 AC: 33389 AN: 40792

American (AMR) AF: 0.808 AC: 12179 AN: 15082

Ashkenazi Jewish (ASJ) AF: 0.766 AC: 2634 AN: 3440

East Asian (EAS) AF: 0.826 AC: 4199 AN: 5086

South Asian (SAS) AF: 0.814 AC: 3861 AN: 4742

European-Finnish (FIN) AF: 0.783 AC: 8141 AN: 10396

Middle Eastern (MID) AF: 0.776 AC: 228 AN: 294

European-Non Finnish (NFE) AF: 0.772 AC: 51737 AN: 66982

Other (OTH) AF: 0.791 AC: 1645 AN: 2080

Alfa AF: 0.789 Hom.: 4178

Bravo AF: 0.799

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.66
DANN	Benign	0.041
PhyloP100		-0.66

Splicing

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

Other links and lift over

dbSNP: rs914208; hg19: chr21-46408361;