21-44982633-C-G

Variant names:

• chr21-44982633-C-G
• rs914204

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 0.536 in 152,226 control chromosomes in the GnomAD database, including 24,781 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 0.54 (24781 hom., cov: 35)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.235
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.75 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: 0.537 AC: 81622 AN: 152106 Hom.: 24778 Cov.: 35

Gnomad AFR AF: 0.237

Gnomad AMI AF: 0.662

Gnomad AMR AF: 0.647

Gnomad ASJ AF: 0.595

Gnomad EAS AF: 0.770

Gnomad SAS AF: 0.707

Gnomad FIN AF: 0.692

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.635

Gnomad OTH AF: 0.546

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

GnomAD4 genome AF: 0.536 AC: 81631 AN: 152226 Hom.: 24781 Cov.: 35 AF XY: 0.546 AC XY: 40662 AN XY: 74428

African (AFR) AF: 0.236 AC: 9817 AN: 41540

American (AMR) AF: 0.648 AC: 9914 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.595 AC: 2065 AN: 3472

East Asian (EAS) AF: 0.770 AC: 3974 AN: 5162

South Asian (SAS) AF: 0.707 AC: 3415 AN: 4832

European-Finnish (FIN) AF: 0.692 AC: 7347 AN: 10614

Middle Eastern (MID) AF: 0.490 AC: 144 AN: 294

European-Non Finnish (NFE) AF: 0.635 AC: 43197 AN: 67988

Other (OTH) AF: 0.548 AC: 1156 AN: 2110

Alfa AF: 0.487 Hom.: 1732

Bravo AF: 0.517

Asia WGS AF: 0.693 AC: 2407 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.8
DANN	Benign	0.55
PhyloP100		-0.23

Splicing

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

Other links and lift over

dbSNP: rs914204; hg19: chr21-46402548;