rs9891455

Variant names:

• chr17-32132039-T-C
• rs9891455

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.267 in 152,118 control chromosomes in the GnomAD database, including 6,994 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.27 (6994 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.219

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.487 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: 0.267 AC: 40524 AN: 152000 Hom.: 6962 Cov.: 32

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.136

Gnomad AMR AF: 0.215

Gnomad ASJ AF: 0.218

Gnomad EAS AF: 0.221

Gnomad SAS AF: 0.260

Gnomad FIN AF: 0.137

Gnomad MID AF: 0.188

Gnomad NFE AF: 0.171

Gnomad OTH AF: 0.236

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

GnomAD4 genome AF: 0.267 AC: 40608 AN: 152118 Hom.: 6994 Cov.: 32 AF XY: 0.264 AC XY: 19614 AN XY: 74384

Gnomad4 AFR AF: 0.492

Gnomad4 AMR AF: 0.215

Gnomad4 ASJ AF: 0.218

Gnomad4 EAS AF: 0.221

Gnomad4 SAS AF: 0.259

Gnomad4 FIN AF: 0.137

Gnomad4 NFE AF: 0.171

Gnomad4 OTH AF: 0.240

Alfa AF: 0.228 Hom.: 818

Bravo AF: 0.281

Asia WGS AF: 0.286 AC: 994 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.8
DANN	Benign	0.81

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs9891455; hg19: chr17-30459058;