3-186841890-AAC-AACAC

Variant names:

• chr3-186841890-A-AAC
• rs60806105

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.149 in 151,394 control chromosomes in the GnomAD database, including 2,119 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.15 (2119 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.09
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.239 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.149 AC: 22590 AN: 151282 Hom.: 2110 Cov.: 30

Gnomad AFR AF: 0.243

Gnomad AMI AF: 0.0921

Gnomad AMR AF: 0.163

Gnomad ASJ AF: 0.0667

Gnomad EAS AF: 0.184

Gnomad SAS AF: 0.0688

Gnomad FIN AF: 0.250

Gnomad MID AF: 0.0955

Gnomad NFE AF: 0.0830

Gnomad OTH AF: 0.124

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

GnomAD4 genome AF: 0.149 AC: 22624 AN: 151394 Hom.: 2119 Cov.: 30 AF XY: 0.156 AC XY: 11553 AN XY: 73944

African (AFR) AF: 0.243 AC: 10030 AN: 41276

American (AMR) AF: 0.163 AC: 2482 AN: 15196

Ashkenazi Jewish (ASJ) AF: 0.0667 AC: 230 AN: 3450

East Asian (EAS) AF: 0.184 AC: 950 AN: 5152

South Asian (SAS) AF: 0.0682 AC: 327 AN: 4796

European-Finnish (FIN) AF: 0.250 AC: 2601 AN: 10410

Middle Eastern (MID) AF: 0.0890 AC: 26 AN: 292

European-Non Finnish (NFE) AF: 0.0830 AC: 5630 AN: 67814

Other (OTH) AF: 0.126 AC: 264 AN: 2096

Alfa AF: 0.0479 Hom.: 44

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.1

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs60806105;

hg19: chr3-186559679;