10-70170920-CTTTTTTTTTTTT-CTTTTTTTT

Variant names:

• chr10-70170920-CTTTT-C
• rs5785963

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

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

• Frequency:
  • Genomes: 𝑓 0.33 (1406 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.46

ACMG classification

Verdict is Uncertain_significance. Variant got 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: 0.00 AC: 23753 AN: 72372 Hom.: 1405 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.198

Gnomad AMI AF: 0.410

Gnomad AMR AF: 0.438

Gnomad ASJ AF: 0.343

Gnomad EAS AF: 0.457

Gnomad SAS AF: 0.388

Gnomad FIN AF: 0.333

Gnomad MID AF: 0.338

Gnomad NFE AF: 0.354

Gnomad OTH AF: 0.348

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: 0.328 AC: 23748 AN: 72384 Hom.: 1406 Cov.: 0 AF XY: 0.328 AC XY: 10464 AN XY: 31918

Gnomad4 AFR AF: 0.197

Gnomad4 AMR AF: 0.439

Gnomad4 ASJ AF: 0.343

Gnomad4 EAS AF: 0.458

Gnomad4 SAS AF: 0.386

Gnomad4 FIN AF: 0.333

Gnomad4 NFE AF: 0.354

Gnomad4 OTH AF: 0.345

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs5785963; hg19: chr10-71930676;