chr22-36183118-T-C

Variant names:

• chr22-36183118-T-C
• rs132692

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 0.803 in 152,128 control chromosomes in the GnomAD database, including 49,277 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 0.80 (49277 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.14
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.89 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: 0.803 AC: 122027 AN: 152010 Hom.: 49261 Cov.: 31

Gnomad AFR AF: 0.873

Gnomad AMI AF: 0.730

Gnomad AMR AF: 0.766

Gnomad ASJ AF: 0.790

Gnomad EAS AF: 0.912

Gnomad SAS AF: 0.898

Gnomad FIN AF: 0.842

Gnomad MID AF: 0.829

Gnomad NFE AF: 0.750

Gnomad OTH AF: 0.783

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

GnomAD4 genome AF: 0.803 AC: 122093 AN: 152128 Hom.: 49277 Cov.: 31 AF XY: 0.808 AC XY: 60099 AN XY: 74364

African (AFR) AF: 0.872 AC: 36199 AN: 41502

American (AMR) AF: 0.765 AC: 11684 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.790 AC: 2740 AN: 3470

East Asian (EAS) AF: 0.912 AC: 4722 AN: 5180

South Asian (SAS) AF: 0.898 AC: 4321 AN: 4814

European-Finnish (FIN) AF: 0.842 AC: 8916 AN: 10592

Middle Eastern (MID) AF: 0.816 AC: 240 AN: 294

European-Non Finnish (NFE) AF: 0.749 AC: 50950 AN: 67980

Other (OTH) AF: 0.784 AC: 1657 AN: 2114

Alfa AF: 0.764 Hom.: 82107

Bravo AF: 0.796

Asia WGS AF: 0.865 AC: 3006 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.34
DANN	Benign	0.34
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs132692; hg19: chr22-36579166;