rs9611198

Variant names:

• chr22-39559868-A-C
• rs9611198

Your query was ambiguous. Multiple possible variants found:

• chr22-39559868-A-C
• chr22-39559868-A-G
• chr22-39559868-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 0.599 in 151,666 control chromosomes in the GnomAD database, including 28,075 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 0.60 (28075 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.140
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.944 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: 0.599 AC: 90752 AN: 151550 Hom.: 28037 Cov.: 31

Gnomad AFR AF: 0.698

Gnomad AMI AF: 0.476

Gnomad AMR AF: 0.569

Gnomad ASJ AF: 0.557

Gnomad EAS AF: 0.966

Gnomad SAS AF: 0.536

Gnomad FIN AF: 0.617

Gnomad MID AF: 0.665

Gnomad NFE AF: 0.522

Gnomad OTH AF: 0.608

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

GnomAD4 genome AF: 0.599 AC: 90838 AN: 151666 Hom.: 28075 Cov.: 31 AF XY: 0.603 AC XY: 44650 AN XY: 74072

African (AFR) AF: 0.698 AC: 28902 AN: 41390

American (AMR) AF: 0.569 AC: 8685 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.557 AC: 1928 AN: 3462

East Asian (EAS) AF: 0.966 AC: 4929 AN: 5102

South Asian (SAS) AF: 0.535 AC: 2569 AN: 4802

European-Finnish (FIN) AF: 0.617 AC: 6505 AN: 10542

Middle Eastern (MID) AF: 0.670 AC: 197 AN: 294

European-Non Finnish (NFE) AF: 0.522 AC: 35400 AN: 67790

Other (OTH) AF: 0.612 AC: 1291 AN: 2108

Alfa AF: 0.608 Hom.: 10620

Bravo AF: 0.603

Asia WGS AF: 0.767 AC: 2666 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.54
DANN	Benign	0.46
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs9611198; hg19: chr22-39955873;