rs11701193

Variant names:

• chr21-44989526-G-A
• rs11701193

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 0.527 in 152,126 control chromosomes in the GnomAD database, including 21,986 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 0.53 (21986 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.392
• Publications: 1 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 = 0.684 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: 0.527 AC: 80171 AN: 152008 Hom.: 21983 Cov.: 33

Gnomad AFR AF: 0.379

Gnomad AMI AF: 0.547

Gnomad AMR AF: 0.530

Gnomad ASJ AF: 0.525

Gnomad EAS AF: 0.660

Gnomad SAS AF: 0.702

Gnomad FIN AF: 0.610

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.581

Gnomad OTH AF: 0.546

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

GnomAD4 genome AF: 0.527 AC: 80209 AN: 152126 Hom.: 21986 Cov.: 33 AF XY: 0.531 AC XY: 39458 AN XY: 74356

African (AFR) AF: 0.379 AC: 15705 AN: 41480

American (AMR) AF: 0.530 AC: 8110 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.525 AC: 1822 AN: 3470

East Asian (EAS) AF: 0.659 AC: 3412 AN: 5174

South Asian (SAS) AF: 0.703 AC: 3394 AN: 4826

European-Finnish (FIN) AF: 0.610 AC: 6462 AN: 10598

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

European-Non Finnish (NFE) AF: 0.581 AC: 39472 AN: 67968

Other (OTH) AF: 0.546 AC: 1153 AN: 2112

Alfa AF: 0.558 Hom.: 8018

Bravo AF: 0.509

Asia WGS AF: 0.656 AC: 2278 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	3.7
DANN	Benign	0.50
PhyloP100		0.39

Splicing

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

Other links and lift over

dbSNP: rs11701193; hg19: chr21-46409441;