rs2197089

Variant names:

• chr8-19968862-G-A
• rs2197089

Your query was ambiguous. Multiple possible variants found:

• chr8-19968862-G-A
• chr8-19968862-G-C
• chr8-19968862-G-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 0.606 in 152,008 control chromosomes in the GnomAD database, including 29,183 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 0.61 (29183 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.37
• Publications: 57 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.78 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: 0.606 AC: 91989 AN: 151890 Hom.: 29141 Cov.: 31

Gnomad AFR AF: 0.786

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.521

Gnomad ASJ AF: 0.572

Gnomad EAS AF: 0.326

Gnomad SAS AF: 0.420

Gnomad FIN AF: 0.580

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.554

Gnomad OTH AF: 0.574

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

GnomAD4 genome AF: 0.606 AC: 92075 AN: 152008 Hom.: 29183 Cov.: 31 AF XY: 0.599 AC XY: 44494 AN XY: 74290

African (AFR) AF: 0.787 AC: 32644 AN: 41494

American (AMR) AF: 0.521 AC: 7956 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.572 AC: 1984 AN: 3470

East Asian (EAS) AF: 0.326 AC: 1679 AN: 5148

South Asian (SAS) AF: 0.420 AC: 2022 AN: 4814

European-Finnish (FIN) AF: 0.580 AC: 6122 AN: 10554

Middle Eastern (MID) AF: 0.548 AC: 161 AN: 294

European-Non Finnish (NFE) AF: 0.554 AC: 37652 AN: 67928

Other (OTH) AF: 0.570 AC: 1204 AN: 2112

Alfa AF: 0.566 Hom.: 107940

Bravo AF: 0.610

Asia WGS AF: 0.392 AC: 1364 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.16
DANN	Benign	0.69
PhyloP100		-3.4

Splicing

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

Other links and lift over

dbSNP: rs2197089; hg19: chr8-19826373;