10-36818675-GTTTTT-GTTT

Variant names:

• chr10-36818675-GTT-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 0.068 (350 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 (SAS) allele frequency at 95% confidence interval = 0.0795 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: 0.0682 AC: 9567 AN: 140286 Hom.: 349 Cov.: 0

Gnomad AFR AF: 0.0593

Gnomad AMI AF: 0.0671

Gnomad AMR AF: 0.0466

Gnomad ASJ AF: 0.0708

Gnomad EAS AF: 0.0460

Gnomad SAS AF: 0.0860

Gnomad FIN AF: 0.0830

Gnomad MID AF: 0.0374

Gnomad NFE AF: 0.0767

Gnomad OTH AF: 0.0611

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

GnomAD4 genome AF: 0.0682 AC: 9574 AN: 140308 Hom.: 350 Cov.: 0 AF XY: 0.0678 AC XY: 4559 AN XY: 67200

African (AFR) AF: 0.0592 AC: 2232 AN: 37682

American (AMR) AF: 0.0469 AC: 644 AN: 13746

Ashkenazi Jewish (ASJ) AF: 0.0708 AC: 240 AN: 3388

East Asian (EAS) AF: 0.0464 AC: 221 AN: 4766

South Asian (SAS) AF: 0.0867 AC: 384 AN: 4430

European-Finnish (FIN) AF: 0.0830 AC: 615 AN: 7406

Middle Eastern (MID) AF: 0.0404 AC: 11 AN: 272

European-Non Finnish (NFE) AF: 0.0767 AC: 5048 AN: 65814

Other (OTH) AF: 0.0623 AC: 119 AN: 1910

Alfa AF: 0.0624 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;