rs9610289

Variant names:

• chr22-35378038-G-A
• rs9610289

Your query was ambiguous. Multiple possible variants found:

• chr22-35378038-G-A
• chr22-35378038-G-C
• chr22-35378038-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 0.273 in 152,082 control chromosomes in the GnomAD database, including 6,201 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 0.27 (6201 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0850
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.437 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.273 AC: 41551 AN: 151964 Hom.: 6212 Cov.: 32

Gnomad AFR AF: 0.157

Gnomad AMI AF: 0.190

Gnomad AMR AF: 0.215

Gnomad ASJ AF: 0.344

Gnomad EAS AF: 0.452

Gnomad SAS AF: 0.410

Gnomad FIN AF: 0.362

Gnomad MID AF: 0.341

Gnomad NFE AF: 0.317

Gnomad OTH AF: 0.280

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

GnomAD4 genome AF: 0.273 AC: 41539 AN: 152082 Hom.: 6201 Cov.: 32 AF XY: 0.279 AC XY: 20719 AN XY: 74338

African (AFR) AF: 0.157 AC: 6512 AN: 41518

American (AMR) AF: 0.215 AC: 3284 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.344 AC: 1191 AN: 3466

East Asian (EAS) AF: 0.452 AC: 2332 AN: 5154

South Asian (SAS) AF: 0.408 AC: 1965 AN: 4818

European-Finnish (FIN) AF: 0.362 AC: 3832 AN: 10574

Middle Eastern (MID) AF: 0.325 AC: 95 AN: 292

European-Non Finnish (NFE) AF: 0.317 AC: 21563 AN: 67956

Other (OTH) AF: 0.281 AC: 592 AN: 2110

Alfa AF: 0.313 Hom.: 4006

Bravo AF: 0.256

Asia WGS AF: 0.422 AC: 1468 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.0
DANN	Benign	0.65
PhyloP100		-0.085

Splicing

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

Other links and lift over

dbSNP: rs9610289; hg19: chr22-35774031;