16-10183567-GACACACACACACACACAC-GACAC

Variant names:

• chr16-10183567-GACACACACACACAC-G
• 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 0.00037 (0 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.35

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: 0.000367 AC: 46 AN: 125466 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000247

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000392

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000493

Gnomad SAS AF: 0.00212

Gnomad FIN AF: 0.000143

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000350

Gnomad OTH AF: 0.00119

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.000366 AC: 46 AN: 125530 Hom.: 0 Cov.: 0 AF XY: 0.000421 AC XY: 25 AN XY: 59438

Gnomad4 AFR AF: 0.000246

Gnomad4 AMR AF: 0.000391

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000494

Gnomad4 SAS AF: 0.00213

Gnomad4 FIN AF: 0.000143

Gnomad4 NFE AF: 0.000350

Gnomad4 OTH AF: 0.00118

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;