rs13255059

Variant names:

• chr8-127518371-A-G
• rs13255059

Your query was ambiguous. Multiple possible variants found:

• chr8-127518371-A-G
• chr8-127518371-A-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 0.909 in 152,174 control chromosomes in the GnomAD database, including 62,940 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 (62940 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0880
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.932 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: 0.909 AC: 138188 AN: 152056 Hom.: 62892 Cov.: 33

Gnomad AFR AF: 0.940

Gnomad AMI AF: 0.905

Gnomad AMR AF: 0.929

Gnomad ASJ AF: 0.938

Gnomad EAS AF: 0.857

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.946

Gnomad NFE AF: 0.901

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: 138292 AN: 152174 Hom.: 62940 Cov.: 33 AF XY: 0.906 AC XY: 67388 AN XY: 74374

African (AFR) AF: 0.940 AC: 39035 AN: 41540

American (AMR) AF: 0.928 AC: 14205 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.938 AC: 3254 AN: 3470

East Asian (EAS) AF: 0.857 AC: 4440 AN: 5182

South Asian (SAS) AF: 0.868 AC: 4193 AN: 4828

European-Finnish (FIN) AF: 0.838 AC: 8817 AN: 10524

Middle Eastern (MID) AF: 0.956 AC: 281 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 61310 AN: 68014

Other (OTH) AF: 0.915 AC: 1933 AN: 2112

Alfa AF: 0.905 Hom.: 45870

Bravo AF: 0.916

Asia WGS AF: 0.833 AC: 2901 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.60
PhyloP100		0.088

Splicing

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

Other links and lift over

dbSNP: rs13255059; hg19: chr8-128530616;