10-70170920-CTTTTTTTTTTTT-CTTTTTTT

Variant names:

• chr10-70170920-CTTTTT-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 0.00034 (0 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: 25 AN: 73066 Hom.: 0 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.000545

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000182

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000968

Gnomad SAS AF: 0.00120

Gnomad FIN AF: 0.00108

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000235

Gnomad OTH AF: 0.00

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: 0.000342 AC: 25 AN: 73078 Hom.: 0 Cov.: 0 AF XY: 0.000404 AC XY: 13 AN XY: 32174

Gnomad4 AFR AF: 0.000544

Gnomad4 AMR AF: 0.000182

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000972

Gnomad4 SAS AF: 0.00121

Gnomad4 FIN AF: 0.00108

Gnomad4 NFE AF: 0.000235

Gnomad4 OTH AF: 0.00

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;