rs914207

Variant names:

• chr21-44985839-G-A
• rs914207

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 0.803 in 152,176 control chromosomes in the GnomAD database, including 49,155 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 0.80 (49155 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.70
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.829 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: 0.803 AC: 122091 AN: 152058 Hom.: 49115 Cov.: 33

Gnomad AFR AF: 0.836

Gnomad AMI AF: 0.750

Gnomad AMR AF: 0.816

Gnomad ASJ AF: 0.775

Gnomad EAS AF: 0.831

Gnomad SAS AF: 0.824

Gnomad FIN AF: 0.790

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.781

Gnomad OTH AF: 0.801

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

GnomAD4 genome AF: 0.803 AC: 122190 AN: 152176 Hom.: 49155 Cov.: 33 AF XY: 0.802 AC XY: 59672 AN XY: 74396

African (AFR) AF: 0.836 AC: 34729 AN: 41544

American (AMR) AF: 0.816 AC: 12476 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.775 AC: 2676 AN: 3454

East Asian (EAS) AF: 0.830 AC: 4283 AN: 5160

South Asian (SAS) AF: 0.824 AC: 3978 AN: 4826

European-Finnish (FIN) AF: 0.790 AC: 8377 AN: 10608

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

European-Non Finnish (NFE) AF: 0.781 AC: 53063 AN: 67968

Other (OTH) AF: 0.802 AC: 1696 AN: 2114

Alfa AF: 0.793 Hom.: 17230

Bravo AF: 0.803

Asia WGS AF: 0.841 AC: 2922 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.40
DANN	Benign	0.43
PhyloP100		-2.7

Splicing

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

Other links and lift over

dbSNP: rs914207; hg19: chr21-46405754;