21-44834696-C-G

Variant names:

• chr21-44834696-C-G
• rs190193

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 0.711 in 152,158 control chromosomes in the GnomAD database, including 38,768 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 (38768 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.05
• Publications: 2 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 (AFR) allele frequency at 95% confidence interval = 0.784 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: 0.711 AC: 108137 AN: 152040 Hom.: 38725 Cov.: 32

Gnomad AFR AF: 0.791

Gnomad AMI AF: 0.576

Gnomad AMR AF: 0.677

Gnomad ASJ AF: 0.693

Gnomad EAS AF: 0.758

Gnomad SAS AF: 0.593

Gnomad FIN AF: 0.718

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.677

Gnomad OTH AF: 0.712

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

GnomAD4 genome AF: 0.711 AC: 108243 AN: 152158 Hom.: 38768 Cov.: 32 AF XY: 0.710 AC XY: 52796 AN XY: 74362

African (AFR) AF: 0.791 AC: 32854 AN: 41522

American (AMR) AF: 0.677 AC: 10355 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.693 AC: 2405 AN: 3470

East Asian (EAS) AF: 0.758 AC: 3916 AN: 5168

South Asian (SAS) AF: 0.594 AC: 2862 AN: 4822

European-Finnish (FIN) AF: 0.718 AC: 7600 AN: 10582

Middle Eastern (MID) AF: 0.721 AC: 212 AN: 294

European-Non Finnish (NFE) AF: 0.677 AC: 46007 AN: 67990

Other (OTH) AF: 0.714 AC: 1507 AN: 2110

Alfa AF: 0.694 Hom.: 4557

Bravo AF: 0.719

Asia WGS AF: 0.676 AC: 2350 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.85
DANN	Benign	0.33
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs190193; hg19: chr21-46254611;