rs11088975

Variant names:

• chr21-44987523-A-G
• rs11088975

Your query was ambiguous. Multiple possible variants found:

• chr21-44987523-A-G
• chr21-44987523-A-T

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 0.55 in 152,114 control chromosomes in the GnomAD database, including 23,388 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 0.55 (23388 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.626
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.683 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: 0.550 AC: 83598 AN: 151996 Hom.: 23382 Cov.: 34

Gnomad AFR AF: 0.466

Gnomad AMI AF: 0.543

Gnomad AMR AF: 0.570

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.661

Gnomad SAS AF: 0.701

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.569

Gnomad OTH AF: 0.565

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

GnomAD4 genome AF: 0.550 AC: 83645 AN: 152114 Hom.: 23388 Cov.: 34 AF XY: 0.553 AC XY: 41111 AN XY: 74362

African (AFR) AF: 0.466 AC: 19336 AN: 41484

American (AMR) AF: 0.571 AC: 8728 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1784 AN: 3472

East Asian (EAS) AF: 0.661 AC: 3419 AN: 5174

South Asian (SAS) AF: 0.702 AC: 3393 AN: 4830

European-Finnish (FIN) AF: 0.608 AC: 6433 AN: 10582

Middle Eastern (MID) AF: 0.612 AC: 180 AN: 294

European-Non Finnish (NFE) AF: 0.569 AC: 38688 AN: 67962

Other (OTH) AF: 0.564 AC: 1190 AN: 2110

Alfa AF: 0.438 Hom.: 1275

Bravo AF: 0.541

Asia WGS AF: 0.661 AC: 2297 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.74
DANN	Benign	0.34
PhyloP100		-0.63

Splicing

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

Other links and lift over

dbSNP: rs11088975; hg19: chr21-46407438;