rs911122

Variant names:

• chr20-23645109-G-A
• rs911122

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 0.496 in 151,964 control chromosomes in the GnomAD database, including 21,780 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 0.50 (21780 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.661

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.66 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: 0.497 AC: 75417 AN: 151846 Hom.: 21780 Cov.: 31

Gnomad AFR AF: 0.177

Gnomad AMI AF: 0.737

Gnomad AMR AF: 0.636

Gnomad ASJ AF: 0.649

Gnomad EAS AF: 0.679

Gnomad SAS AF: 0.464

Gnomad FIN AF: 0.663

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.610

Gnomad OTH AF: 0.533

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

GnomAD4 genome AF: 0.496 AC: 75433 AN: 151964 Hom.: 21780 Cov.: 31 AF XY: 0.502 AC XY: 37311 AN XY: 74278

Gnomad4 AFR AF: 0.177

Gnomad4 AMR AF: 0.636

Gnomad4 ASJ AF: 0.649

Gnomad4 EAS AF: 0.679

Gnomad4 SAS AF: 0.465

Gnomad4 FIN AF: 0.663

Gnomad4 NFE AF: 0.610

Gnomad4 OTH AF: 0.529

Alfa AF: 0.594 Hom.: 54318

Bravo AF: 0.483

Asia WGS AF: 0.538 AC: 1874 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.62
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs911122; hg19: chr20-23625746;