rs928311

Variant names:

• chr21-44985427-A-G
• rs928311

Your query was ambiguous. Multiple possible variants found:

• chr21-44985427-A-G
• chr21-44985427-A-T

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 0.557 in 152,106 control chromosomes in the GnomAD database, including 24,767 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 0.56 (24767 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.812

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.746 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: 0.557 AC: 84712 AN: 151988 Hom.: 24759 Cov.: 34

Gnomad AFR AF: 0.375

Gnomad AMI AF: 0.562

Gnomad AMR AF: 0.565

Gnomad ASJ AF: 0.571

Gnomad EAS AF: 0.714

Gnomad SAS AF: 0.765

Gnomad FIN AF: 0.636

Gnomad MID AF: 0.640

Gnomad NFE AF: 0.626

Gnomad OTH AF: 0.590

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

GnomAD4 genome AF: 0.557 AC: 84755 AN: 152106 Hom.: 24767 Cov.: 34 AF XY: 0.561 AC XY: 41686 AN XY: 74364

Gnomad4 AFR AF: 0.374

Gnomad4 AMR AF: 0.565

Gnomad4 ASJ AF: 0.571

Gnomad4 EAS AF: 0.713

Gnomad4 SAS AF: 0.767

Gnomad4 FIN AF: 0.636

Gnomad4 NFE AF: 0.626

Gnomad4 OTH AF: 0.593

Alfa AF: 0.587 Hom.: 3355

Bravo AF: 0.538

Asia WGS AF: 0.721 AC: 2505 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.3
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs928311; hg19: chr21-46405342;