rs184432

Variant names:

• chr21-42367453-G-A
• rs184432

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 0.641 in 151,714 control chromosomes in the GnomAD database, including 32,126 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 0.64 (32126 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.27
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.709 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.641 AC: 97147 AN: 151596 Hom.: 32113 Cov.: 29

Gnomad AFR AF: 0.533

Gnomad AMI AF: 0.720

Gnomad AMR AF: 0.665

Gnomad ASJ AF: 0.719

Gnomad EAS AF: 0.263

Gnomad SAS AF: 0.575

Gnomad FIN AF: 0.736

Gnomad MID AF: 0.693

Gnomad NFE AF: 0.715

Gnomad OTH AF: 0.624

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

GnomAD4 genome AF: 0.641 AC: 97206 AN: 151714 Hom.: 32126 Cov.: 29 AF XY: 0.638 AC XY: 47279 AN XY: 74134

African (AFR) AF: 0.532 AC: 21994 AN: 41322

American (AMR) AF: 0.666 AC: 10156 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.719 AC: 2496 AN: 3470

East Asian (EAS) AF: 0.263 AC: 1357 AN: 5150

South Asian (SAS) AF: 0.575 AC: 2752 AN: 4790

European-Finnish (FIN) AF: 0.736 AC: 7729 AN: 10502

Middle Eastern (MID) AF: 0.697 AC: 205 AN: 294

European-Non Finnish (NFE) AF: 0.715 AC: 48543 AN: 67912

Other (OTH) AF: 0.627 AC: 1322 AN: 2108

Alfa AF: 0.683 Hom.: 25826

Bravo AF: 0.631

Asia WGS AF: 0.468 AC: 1627 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.39
DANN	Benign	0.29
PhyloP100		-3.3

Splicing

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

Other links and lift over

dbSNP: rs184432; hg19: chr21-43787562;