9-104317871-TAGACAGACAGAC-TAGACAGAC

Variant names:

• chr9-104317871-TAGAC-T
• rs71992086

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;