10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTTT

Variant names:

• chr10-70170920-C-CTT
• rs5785963

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

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

• Frequency:
  • Genomes: 𝑓 0.053 (311 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.120
• Publications: 1 publications found

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

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: 0.0530 AC: 3870 AN: 73044 Hom.: 311 Cov.: 0

Gnomad AFR AF: 0.0526

Gnomad AMI AF: 0.0638

Gnomad AMR AF: 0.0300

Gnomad ASJ AF: 0.0388

Gnomad EAS AF: 0.0505

Gnomad SAS AF: 0.0247

Gnomad FIN AF: 0.0281

Gnomad MID AF: 0.0128

Gnomad NFE AF: 0.0589

Gnomad OTH AF: 0.0403

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0530 AC: 3872 AN: 73058 Hom.: 311 Cov.: 0 AF XY: 0.0504 AC XY: 1621 AN XY: 32162

African (AFR) AF: 0.0526 AC: 870 AN: 16528

American (AMR) AF: 0.0300 AC: 165 AN: 5502

Ashkenazi Jewish (ASJ) AF: 0.0388 AC: 91 AN: 2348

East Asian (EAS) AF: 0.0507 AC: 104 AN: 2052

South Asian (SAS) AF: 0.0248 AC: 41 AN: 1650

European-Finnish (FIN) AF: 0.0281 AC: 26 AN: 926

Middle Eastern (MID) AF: 0.0139 AC: 1 AN: 72

European-Non Finnish (NFE) AF: 0.0589 AC: 2500 AN: 42474

Other (OTH) AF: 0.0400 AC: 37 AN: 926

Alfa AF: 0.0321 Hom.: 236

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs5785963; hg19: chr10-71930676;