16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACAC

Variant names:

• chr16-10183567-G-GACACACACACACACACACACACAC
• 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 0.0065 (26 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 26 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: 0.00647 AC: 811 AN: 125434 Hom.: 26 Cov.: 0

Gnomad AFR AF: 0.0146

Gnomad AMI AF: 0.00998

Gnomad AMR AF: 0.00407

Gnomad ASJ AF: 0.00564

Gnomad EAS AF: 0.00345

Gnomad SAS AF: 0.00212

Gnomad FIN AF: 0.000428

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00375

Gnomad OTH AF: 0.00656

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

GnomAD4 genome AF: 0.00647 AC: 812 AN: 125496 Hom.: 26 Cov.: 0 AF XY: 0.00601 AC XY: 357 AN XY: 59424

Gnomad4 AFR AF: 0.0146

Gnomad4 AMR AF: 0.00407

Gnomad4 ASJ AF: 0.00564

Gnomad4 EAS AF: 0.00346

Gnomad4 SAS AF: 0.00213

Gnomad4 FIN AF: 0.000428

Gnomad4 NFE AF: 0.00375

Gnomad4 OTH AF: 0.00648

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;