rs184432

Variant names:

• chr21-42367453-G-A
• rs184432

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.641 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

Gnomad4 AFR AF: 0.532

Gnomad4 AMR AF: 0.666

Gnomad4 ASJ AF: 0.719

Gnomad4 EAS AF: 0.263

Gnomad4 SAS AF: 0.575

Gnomad4 FIN AF: 0.736

Gnomad4 NFE AF: 0.715

Gnomad4 OTH AF: 0.627

Alfa AF: 0.697 Hom.: 18492

Bravo AF: 0.631

Asia WGS AF: 0.468 AC: 1627 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs184432; hg19: chr21-43787562;