10-36818675-GTTTTT-GTTTT

Variant names:

• chr10-36818675-GT-G
• rs9337239

Variant summary

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

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.92 (59099 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.259
• Publications: 1 publications found

ACMG classification

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

• BA1: GnomAd4 highest subpopulation (EAS) 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: 0.918 AC: 128805 AN: 140348 Hom.: 59103 Cov.: 0

Gnomad AFR AF: 0.900

Gnomad AMI AF: 0.933

Gnomad AMR AF: 0.945

Gnomad ASJ AF: 0.928

Gnomad EAS AF: 0.951

Gnomad SAS AF: 0.913

Gnomad FIN AF: 0.903

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.921

Gnomad OTH AF: 0.930

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

GnomAD4 genome AF: 0.918 AC: 128810 AN: 140370 Hom.: 59099 Cov.: 0 AF XY: 0.918 AC XY: 61711 AN XY: 67238

African (AFR) AF: 0.899 AC: 33904 AN: 37694

American (AMR) AF: 0.945 AC: 13014 AN: 13768

Ashkenazi Jewish (ASJ) AF: 0.928 AC: 3145 AN: 3390

East Asian (EAS) AF: 0.950 AC: 4529 AN: 4766

South Asian (SAS) AF: 0.912 AC: 4038 AN: 4428

European-Finnish (FIN) AF: 0.903 AC: 6678 AN: 7394

Middle Eastern (MID) AF: 0.956 AC: 260 AN: 272

European-Non Finnish (NFE) AF: 0.921 AC: 60631 AN: 65850

Other (OTH) AF: 0.928 AC: 1777 AN: 1914

Alfa AF: 0.913 Hom.: 1873

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.26

Splicing

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

Other links and lift over

dbSNP: rs9337239; hg19: chr10-37107603;