9-104317871-TAGACAGACAGAC-TAGACAGAC

Position:

• chr9-104317871-TAGACAGACAGAC-TAGACAGAC

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 0.25 (4891 hom., cov: 13)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.146

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.393 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: 0.253 AC: 36894 AN: 146098 Hom.: 4887 Cov.: 13

Gnomad AFR AF: 0.186

Gnomad AMI AF: 0.207

Gnomad AMR AF: 0.302

Gnomad ASJ AF: 0.192

Gnomad EAS AF: 0.409

Gnomad SAS AF: 0.279

Gnomad FIN AF: 0.259

Gnomad MID AF: 0.179

Gnomad NFE AF: 0.270

Gnomad OTH AF: 0.270

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

GnomAD4 genome AF: 0.252 AC: 36907 AN: 146200 Hom.: 4891 Cov.: 13 AF XY: 0.254 AC XY: 18080 AN XY: 71204

Gnomad4 AFR AF: 0.185

Gnomad4 AMR AF: 0.302

Gnomad4 ASJ AF: 0.192

Gnomad4 EAS AF: 0.408

Gnomad4 SAS AF: 0.279

Gnomad4 FIN AF: 0.259

Gnomad4 NFE AF: 0.270

Gnomad4 OTH AF: 0.274

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;