16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACAC

Position:

• chr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACAC

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 0.0021 (7 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 7 gene

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: 0.00206 AC: 259 AN: 125444 Hom.: 7 Cov.: 0

Gnomad AFR AF: 0.00470

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00110

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000246

Gnomad SAS AF: 0.000908

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00388

Gnomad NFE AF: 0.00145

Gnomad OTH AF: 0.000597

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

GnomAD4 genome AF: 0.00206 AC: 259 AN: 125508 Hom.: 7 Cov.: 0 AF XY: 0.00224 AC XY: 133 AN XY: 59428

Gnomad4 AFR AF: 0.00468

Gnomad4 AMR AF: 0.00110

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000247

Gnomad4 SAS AF: 0.000912

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00145

Gnomad4 OTH AF: 0.000589

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;