rs9901283

Variant names:

• chr17-74841693-G-A
• rs9901283

Your query was ambiguous. Multiple possible variants found:

• chr17-74841693-G-A
• chr17-74841693-G-C

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 0.566 in 152,166 control chromosomes in the GnomAD database, including 25,160 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 0.57 (25160 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.42

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.629 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: 0.566 AC: 86130 AN: 152048 Hom.: 25154 Cov.: 34

Gnomad AFR AF: 0.483

Gnomad AMI AF: 0.726

Gnomad AMR AF: 0.572

Gnomad ASJ AF: 0.478

Gnomad EAS AF: 0.331

Gnomad SAS AF: 0.458

Gnomad FIN AF: 0.642

Gnomad MID AF: 0.437

Gnomad NFE AF: 0.634

Gnomad OTH AF: 0.539

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

GnomAD4 genome AF: 0.566 AC: 86161 AN: 152166 Hom.: 25160 Cov.: 34 AF XY: 0.565 AC XY: 42062 AN XY: 74396

Gnomad4 AFR AF: 0.483

Gnomad4 AMR AF: 0.572

Gnomad4 ASJ AF: 0.478

Gnomad4 EAS AF: 0.331

Gnomad4 SAS AF: 0.457

Gnomad4 FIN AF: 0.642

Gnomad4 NFE AF: 0.634

Gnomad4 OTH AF: 0.537

Alfa AF: 0.605 Hom.: 6207

Bravo AF: 0.557

Asia WGS AF: 0.411 AC: 1433 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	18
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9901283; hg19: chr17-72837832;