chr16-10183567-G-GACACAC

Position:

• chr16-10183567-G-GACACAC

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

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

• Frequency: Genomes: 𝑓 0.055 (302 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0999 is higher than 0.05.

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: 0.0548 AC: 6876 AN: 125386 Hom.: 302 Cov.: 0

Gnomad AFR AF: 0.0594

Gnomad AMI AF: 0.0485

Gnomad AMR AF: 0.0532

Gnomad ASJ AF: 0.0395

Gnomad EAS AF: 0.108

Gnomad SAS AF: 0.0660

Gnomad FIN AF: 0.0351

Gnomad MID AF: 0.0388

Gnomad NFE AF: 0.0519

Gnomad OTH AF: 0.0507

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

GnomAD4 genome AF: 0.0549 AC: 6881 AN: 125448 Hom.: 302 Cov.: 0 AF XY: 0.0549 AC XY: 3262 AN XY: 59398

Gnomad4 AFR AF: 0.0594

Gnomad4 AMR AF: 0.0532

Gnomad4 ASJ AF: 0.0395

Gnomad4 EAS AF: 0.108

Gnomad4 SAS AF: 0.0670

Gnomad4 FIN AF: 0.0351

Gnomad4 NFE AF: 0.0519

Gnomad4 OTH AF: 0.0512

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;