rs891754

Variant names:

• chr17-34483424-A-C
• rs891754

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 0.386 in 152,138 control chromosomes in the GnomAD database, including 11,806 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 0.39 (11806 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.659

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.426 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: 0.386 AC: 58679 AN: 152020 Hom.: 11798 Cov.: 33

Gnomad AFR AF: 0.350

Gnomad AMI AF: 0.592

Gnomad AMR AF: 0.290

Gnomad ASJ AF: 0.460

Gnomad EAS AF: 0.136

Gnomad SAS AF: 0.410

Gnomad FIN AF: 0.453

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.430

Gnomad OTH AF: 0.372

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

GnomAD4 genome AF: 0.386 AC: 58717 AN: 152138 Hom.: 11806 Cov.: 33 AF XY: 0.384 AC XY: 28579 AN XY: 74396

Gnomad4 AFR AF: 0.350

Gnomad4 AMR AF: 0.290

Gnomad4 ASJ AF: 0.460

Gnomad4 EAS AF: 0.136

Gnomad4 SAS AF: 0.411

Gnomad4 FIN AF: 0.453

Gnomad4 NFE AF: 0.430

Gnomad4 OTH AF: 0.368

Alfa AF: 0.417 Hom.: 27738

Bravo AF: 0.368

Asia WGS AF: 0.238 AC: 830 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.32
DANN	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs891754; hg19: chr17-32810443;