10-70170920-CTTT-C

Position:

• chr10-70170920-CTTT-C

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 0.0020 (1 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	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.00 AC: 146 AN: 72982 Hom.: 1 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.00115

Gnomad AMI AF: 0.00344

Gnomad AMR AF: 0.00292

Gnomad ASJ AF: 0.000855

Gnomad EAS AF: 0.00918

Gnomad SAS AF: 0.00241

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00198

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: 0.00201 AC: 147 AN: 72994 Hom.: 1 Cov.: 0 AF XY: 0.00184 AC XY: 59 AN XY: 32138

Gnomad4 AFR AF: 0.00115

Gnomad4 AMR AF: 0.00291

Gnomad4 ASJ AF: 0.000855

Gnomad4 EAS AF: 0.00921

Gnomad4 SAS AF: 0.00242

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00198

Gnomad4 OTH AF: 0.00108

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;