chr10-70170920-CT-C

Position:

• chr10-70170920-CT-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 0.075 (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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;