rs8126528

chr21-39145849-A-Gchr21-39145849-A-Tchr21-39145849-A-C

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 0.892 in 152,200 control chromosomes in the GnomAD database, including 60,692 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 0.89 (60692 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.574

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.957 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.892 AC: 135650 AN: 152082 Hom.: 60642 Cov.: 31

Gnomad AFR AF: 0.965

Gnomad AMI AF: 0.981

Gnomad AMR AF: 0.884

Gnomad ASJ AF: 0.861

Gnomad EAS AF: 0.858

Gnomad SAS AF: 0.878

Gnomad FIN AF: 0.855

Gnomad MID AF: 0.898

Gnomad NFE AF: 0.859

Gnomad OTH AF: 0.900

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

GnomAD4 genome AF: 0.892 AC: 135757 AN: 152200 Hom.: 60692 Cov.: 31 AF XY: 0.893 AC XY: 66429 AN XY: 74412

Gnomad4 AFR AF: 0.965

Gnomad4 AMR AF: 0.884

Gnomad4 ASJ AF: 0.861

Gnomad4 EAS AF: 0.858

Gnomad4 SAS AF: 0.878

Gnomad4 FIN AF: 0.855

Gnomad4 NFE AF: 0.859

Gnomad4 OTH AF: 0.901

Alfa AF: 0.870 Hom.: 12859

Bravo AF: 0.896

Asia WGS AF: 0.881 AC: 3066 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	2.4
Dann	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8126528; hg19: chr21-40517775;