10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTT

Variant names:

• chr10-70170920-CT-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 0.075 (67 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.120

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: 5444 AN: 72870 Hom.: 68 Cov.: 0 FAILED QC

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

Gnomad4 AFR AF: 0.180

Gnomad4 AMR AF: 0.0806

Gnomad4 ASJ AF: 0.115

Gnomad4 EAS AF: 0.229

Gnomad4 SAS AF: 0.0591

Gnomad4 FIN AF: 0.0108

Gnomad4 NFE AF: 0.0256

Gnomad4 OTH AF: 0.0862

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;