21-43046433-C-T

Variant names:

• chr21-43046433-C-T
• rs8128028

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_Strong BS2

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 0.39 (14716 hom., cov: 19)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.751
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BS2: High Homozygotes in GnomAd4 at 14716 gene

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: 0.393 AC: 49812 AN: 126786 Hom.: 14713 Cov.: 19

Gnomad AFR AF: 0.289

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.447

Gnomad ASJ AF: 0.408

Gnomad EAS AF: 0.545

Gnomad SAS AF: 0.424

Gnomad FIN AF: 0.537

Gnomad MID AF: 0.340

Gnomad NFE AF: 0.418

Gnomad OTH AF: 0.391

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

GnomAD4 genome AF: 0.393 AC: 49851 AN: 126888 Hom.: 14716 Cov.: 19 AF XY: 0.396 AC XY: 24089 AN XY: 60854

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.290 AC: 10663 AN: 36806

American (AMR) AF: 0.447 AC: 5802 AN: 12976

Ashkenazi Jewish (ASJ) AF: 0.408 AC: 1263 AN: 3096

East Asian (EAS) AF: 0.544 AC: 2547 AN: 4678

South Asian (SAS) AF: 0.424 AC: 1587 AN: 3746

European-Finnish (FIN) AF: 0.537 AC: 3892 AN: 7244

Middle Eastern (MID) AF: 0.337 AC: 89 AN: 264

European-Non Finnish (NFE) AF: 0.418 AC: 23198 AN: 55556

Other (OTH) AF: 0.391 AC: 694 AN: 1776

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.192 Hom.: 351

Asia WGS AF: 0.434 AC: 1509 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.015
DANN	Benign	0.70
PhyloP100		-0.75

Splicing

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

Other links and lift over

dbSNP: rs8128028; hg19: chr21-44466543;