9-104317871-TAGACAGACAGAC-TAGAC

Variant names:

• chr9-104317871-TAGACAGAC-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 0.017 (62 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 (AFR) allele frequency at 95% confidence interval = 0.0566 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: 0.0168 AC: 2468 AN: 146920 Hom.: 63 Cov.: 13

Gnomad AFR AF: 0.0585

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00610

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00301

Gnomad SAS AF: 0.00391

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00321

Gnomad NFE AF: 0.000773

Gnomad OTH AF: 0.0115

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

GnomAD4 genome AF: 0.0169 AC: 2479 AN: 147024 Hom.: 62 Cov.: 13 AF XY: 0.0164 AC XY: 1173 AN XY: 71666

Gnomad4 AFR AF: 0.0586

Gnomad4 AMR AF: 0.00609

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00302

Gnomad4 SAS AF: 0.00391

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000773

Gnomad4 OTH AF: 0.0113

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;