10-70170920-CTTTTTTTTTTTT-CTTTTTTTT

Position:

• chr10-70170920-CTTTTTTTTTTTT-CTTTTTTTT

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;