16-10183567-G-GACACACACACACACACACAC

Position:

• chr16-10183567-G-GACACACACACACACACACAC

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 0.020 (91 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/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0196 AC: 2455 AN: 125376 Hom.: 91 Cov.: 0

Gnomad AFR AF: 0.0209

Gnomad AMI AF: 0.0187

Gnomad AMR AF: 0.0178

Gnomad ASJ AF: 0.00940

Gnomad EAS AF: 0.00714

Gnomad SAS AF: 0.00788

Gnomad FIN AF: 0.0146

Gnomad MID AF: 0.00388

Gnomad NFE AF: 0.0221

Gnomad OTH AF: 0.0143

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: 0.0196 AC: 2454 AN: 125440 Hom.: 91 Cov.: 0 AF XY: 0.0186 AC XY: 1105 AN XY: 59402

Gnomad4 AFR AF: 0.0208

Gnomad4 AMR AF: 0.0178

Gnomad4 ASJ AF: 0.00940

Gnomad4 EAS AF: 0.00716

Gnomad4 SAS AF: 0.00792

Gnomad4 FIN AF: 0.0146

Gnomad4 NFE AF: 0.0221

Gnomad4 OTH AF: 0.0141

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;