9-104317871-TAGACAGACAGAC-TAGACAGACAGACAGAC

Position:

• chr9-104317871-TAGACAGACAGAC-TAGACAGACAGACAGAC

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 0.00091 (1 hom., cov: 14)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.140

Genes affected

(HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.104317871_104317872insAGAC		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.000912 AC: 134 AN: 146942 Hom.: 1 Cov.: 14

Gnomad AFR AF: 0.00167

Gnomad AMI AF: 0.0177

Gnomad AMR AF: 0.000274

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000869

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000654

Gnomad OTH AF: 0.000498

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

GnomAD4 genome AF: 0.000911 AC: 134 AN: 147046 Hom.: 1 Cov.: 14 AF XY: 0.00102 AC XY: 73 AN XY: 71672

Gnomad4 AFR AF: 0.00167

Gnomad4 AMR AF: 0.000274

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.000870

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000654

Gnomad4 OTH AF: 0.000493

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: rs71992086; hg19: chr9-107080152;