16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACAC

Variant names:

• chr16-10183567-G-GACACACACACACACACACACACACAC
• rs3219790

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.0028 (13 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 13 gene

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: 0.00277 AC: 348 AN: 125450 Hom.: 13 Cov.: 0

Gnomad AFR AF: 0.00565

Gnomad AMI AF: 0.00746

Gnomad AMR AF: 0.00243

Gnomad ASJ AF: 0.000313

Gnomad EAS AF: 0.00148

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.000285

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00188

Gnomad OTH AF: 0.00358

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

GnomAD4 genome AF: 0.00277 AC: 348 AN: 125514 Hom.: 13 Cov.: 0 AF XY: 0.00279 AC XY: 166 AN XY: 59432

Gnomad4 AFR AF: 0.00564

Gnomad4 AMR AF: 0.00243

Gnomad4 ASJ AF: 0.000313

Gnomad4 EAS AF: 0.00148

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.000285

Gnomad4 NFE AF: 0.00188

Gnomad4 OTH AF: 0.00353

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;