10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTT

Variant names:

• chr10-70170920-CT-C
• 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 0.075 (67 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: 0.0747 AC: 5444 AN: 72870 Hom.: 68 Cov.: 0

Gnomad AFR AF: 0.180

Gnomad AMI AF: 0.0398

Gnomad AMR AF: 0.0808

Gnomad ASJ AF: 0.115

Gnomad EAS AF: 0.229

Gnomad SAS AF: 0.0599

Gnomad FIN AF: 0.0108

Gnomad MID AF: 0.0500

Gnomad NFE AF: 0.0256

Gnomad OTH AF: 0.0850

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: 0.0747 AC: 5444 AN: 72886 Hom.: 67 Cov.: 0 AF XY: 0.0796 AC XY: 2555 AN XY: 32096

African (AFR) AF: 0.180 AC: 2959 AN: 16404

American (AMR) AF: 0.0806 AC: 444 AN: 5506

Ashkenazi Jewish (ASJ) AF: 0.115 AC: 270 AN: 2340

East Asian (EAS) AF: 0.229 AC: 472 AN: 2064

South Asian (SAS) AF: 0.0591 AC: 97 AN: 1642

European-Finnish (FIN) AF: 0.0108 AC: 10 AN: 926

Middle Eastern (MID) AF: 0.0405 AC: 3 AN: 74

European-Non Finnish (NFE) AF: 0.0256 AC: 1086 AN: 42424

Other (OTH) AF: 0.0862 AC: 80 AN: 928

Alfa AF: 0.00 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;