rs9610448

Variant names:

• chr22-36212159-A-G
• rs9610448

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 0.476 in 151,808 control chromosomes in the GnomAD database, including 18,894 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 0.48 (18894 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0530
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.679 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: 0.476 AC: 72249 AN: 151690 Hom.: 18871 Cov.: 30

Gnomad AFR AF: 0.686

Gnomad AMI AF: 0.490

Gnomad AMR AF: 0.423

Gnomad ASJ AF: 0.343

Gnomad EAS AF: 0.129

Gnomad SAS AF: 0.390

Gnomad FIN AF: 0.370

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.417

Gnomad OTH AF: 0.458

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

GnomAD4 genome AF: 0.476 AC: 72327 AN: 151808 Hom.: 18894 Cov.: 30 AF XY: 0.469 AC XY: 34828 AN XY: 74182

African (AFR) AF: 0.686 AC: 28378 AN: 41380

American (AMR) AF: 0.424 AC: 6460 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.343 AC: 1191 AN: 3468

East Asian (EAS) AF: 0.130 AC: 667 AN: 5144

South Asian (SAS) AF: 0.388 AC: 1867 AN: 4806

European-Finnish (FIN) AF: 0.370 AC: 3907 AN: 10546

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.417 AC: 28288 AN: 67904

Other (OTH) AF: 0.458 AC: 964 AN: 2104

Alfa AF: 0.435 Hom.: 66011

Bravo AF: 0.494

Asia WGS AF: 0.312 AC: 1092 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.1
DANN	Benign	0.46
PhyloP100		0.053

Splicing

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

Other links and lift over

dbSNP: rs9610448; hg19: chr22-36608205;