8-127519444-A-T

Variant names:

• chr8-127519444-A-T
• rs11986220

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 0.909 in 150,838 control chromosomes in the GnomAD database, including 62,408 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 0.91 (62408 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.70
• Publications: 37 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.932 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: 0.909 AC: 136998 AN: 150722 Hom.: 62361 Cov.: 29

Gnomad AFR AF: 0.939

Gnomad AMI AF: 0.903

Gnomad AMR AF: 0.929

Gnomad ASJ AF: 0.938

Gnomad EAS AF: 0.857

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.837

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.902

Gnomad OTH AF: 0.920

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

GnomAD4 genome AF: 0.909 AC: 137100 AN: 150838 Hom.: 62408 Cov.: 29 AF XY: 0.906 AC XY: 66682 AN XY: 73594

African (AFR) AF: 0.939 AC: 38775 AN: 41272

American (AMR) AF: 0.928 AC: 14104 AN: 15196

Ashkenazi Jewish (ASJ) AF: 0.938 AC: 3252 AN: 3468

East Asian (EAS) AF: 0.857 AC: 4415 AN: 5154

South Asian (SAS) AF: 0.868 AC: 4169 AN: 4802

European-Finnish (FIN) AF: 0.837 AC: 8348 AN: 9970

Middle Eastern (MID) AF: 0.959 AC: 280 AN: 292

European-Non Finnish (NFE) AF: 0.902 AC: 61010 AN: 67670

Other (OTH) AF: 0.915 AC: 1925 AN: 2104

Alfa AF: 0.899 Hom.: 7171

Bravo AF: 0.916

Asia WGS AF: 0.832 AC: 2864 AN: 3438

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-1.7

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: rs11986220; hg19: chr8-128531689;