rs132665

Variant names:

• chr22-36168122-G-A
• rs132665

Your query was ambiguous. Multiple possible variants found:

• chr22-36168122-G-A
• chr22-36168122-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 0.897 in 152,248 control chromosomes in the GnomAD database, including 61,562 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 0.90 (61562 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.42
• Publications: 6 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 = 0.965 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: 0.897 AC: 136506 AN: 152130 Hom.: 61502 Cov.: 30

Gnomad AFR AF: 0.973

Gnomad AMI AF: 0.737

Gnomad AMR AF: 0.913

Gnomad ASJ AF: 0.887

Gnomad EAS AF: 0.953

Gnomad SAS AF: 0.905

Gnomad FIN AF: 0.911

Gnomad MID AF: 0.911

Gnomad NFE AF: 0.844

Gnomad OTH AF: 0.888

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

GnomAD4 genome AF: 0.897 AC: 136625 AN: 152248 Hom.: 61562 Cov.: 30 AF XY: 0.900 AC XY: 66995 AN XY: 74434

African (AFR) AF: 0.973 AC: 40408 AN: 41546

American (AMR) AF: 0.914 AC: 13971 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.887 AC: 3078 AN: 3472

East Asian (EAS) AF: 0.953 AC: 4937 AN: 5182

South Asian (SAS) AF: 0.904 AC: 4365 AN: 4826

European-Finnish (FIN) AF: 0.911 AC: 9658 AN: 10598

Middle Eastern (MID) AF: 0.908 AC: 267 AN: 294

European-Non Finnish (NFE) AF: 0.844 AC: 57392 AN: 68016

Other (OTH) AF: 0.889 AC: 1878 AN: 2112

Alfa AF: 0.876 Hom.: 13258

Bravo AF: 0.900

Asia WGS AF: 0.941 AC: 3271 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	1.5
DANN	Benign	0.44
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs132665; hg19: chr22-36564170;