16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACAC

Variant names:

• chr16-10183567-G-GACACACACACAC
• rs3219790

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 0.078 (606 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32

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: 9794 AN: 125334 Hom.: 605 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.0357

Gnomad AMI AF: 0.00498

Gnomad AMR AF: 0.121

Gnomad ASJ AF: 0.102

Gnomad EAS AF: 0.111

Gnomad SAS AF: 0.0957

Gnomad FIN AF: 0.0805

Gnomad MID AF: 0.0586

Gnomad NFE AF: 0.0884

Gnomad OTH AF: 0.0747

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: 0.0781 AC: 9797 AN: 125396 Hom.: 606 Cov.: 0 AF XY: 0.0796 AC XY: 4724 AN XY: 59354

Gnomad4 AFR AF: 0.0357

Gnomad4 AMR AF: 0.121

Gnomad4 ASJ AF: 0.102

Gnomad4 EAS AF: 0.110

Gnomad4 SAS AF: 0.0959

Gnomad4 FIN AF: 0.0805

Gnomad4 NFE AF: 0.0884

Gnomad4 OTH AF: 0.0743

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: rs3219790; hg19: chr16-10277424;