rs5889219

chr8-7802049-TAA-T

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 0.38 (2050 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0880

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: 55781 AN: 146338 Hom.: 2043 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.417

Gnomad AMI AF: 0.335

Gnomad AMR AF: 0.355

Gnomad ASJ AF: 0.406

Gnomad EAS AF: 0.276

Gnomad SAS AF: 0.338

Gnomad FIN AF: 0.408

Gnomad MID AF: 0.349

Gnomad NFE AF: 0.372

Gnomad OTH AF: 0.383

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: InbreedingCoeff AF: 0.381 AC: 55836 AN: 146450 Hom.: 2050 Cov.: 0 AF XY: 0.380 AC XY: 27111 AN XY: 71394

Gnomad4 AFR AF: 0.417

Gnomad4 AMR AF: 0.355

Gnomad4 ASJ AF: 0.406

Gnomad4 EAS AF: 0.277

Gnomad4 SAS AF: 0.338

Gnomad4 FIN AF: 0.408

Gnomad4 NFE AF: 0.372

Gnomad4 OTH AF: 0.385

Alfa AF: 0.382 Hom.: 196

Asia WGS AF: 0.318 AC: 1103 AN: 3468

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: rs5889219; hg19: chr8-7659571;