rs73194058

Variant names:

• chr21-33391982-C-A
• rs73194058

Your query was ambiguous. Multiple possible variants found:

• chr21-33391982-C-A
• chr21-33391982-C-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 0.114 in 152,000 control chromosomes in the GnomAD database, including 1,513 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 0.11 (1513 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.450
• Publications: 22 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.382 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: 0.115 AC: 17404 AN: 151882 Hom.: 1517 Cov.: 31

Gnomad AFR AF: 0.0256

Gnomad AMI AF: 0.0669

Gnomad AMR AF: 0.139

Gnomad ASJ AF: 0.125

Gnomad EAS AF: 0.396

Gnomad SAS AF: 0.286

Gnomad FIN AF: 0.176

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.120

Gnomad OTH AF: 0.116

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

GnomAD4 genome AF: 0.114 AC: 17394 AN: 152000 Hom.: 1513 Cov.: 31 AF XY: 0.120 AC XY: 8920 AN XY: 74280

African (AFR) AF: 0.0255 AC: 1059 AN: 41502

American (AMR) AF: 0.139 AC: 2120 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.125 AC: 434 AN: 3472

East Asian (EAS) AF: 0.396 AC: 2036 AN: 5138

South Asian (SAS) AF: 0.285 AC: 1370 AN: 4804

European-Finnish (FIN) AF: 0.176 AC: 1858 AN: 10552

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.120 AC: 8188 AN: 67968

Other (OTH) AF: 0.113 AC: 238 AN: 2106

Alfa AF: 0.107 Hom.: 137

Bravo AF: 0.109

Asia WGS AF: 0.342 AC: 1186 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	1.8
DANN	Benign	0.85
PhyloP100		0.45

Splicing

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

Other links and lift over

dbSNP: rs73194058; hg19: chr21-34764288;