rs9905385

Variant names:

• chr17-61420889-A-G
• rs9905385

Your query was ambiguous. Multiple possible variants found:

• chr17-61420889-A-G
• chr17-61420889-A-T

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 0.708 in 152,008 control chromosomes in the GnomAD database, including 38,396 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 0.71 (38396 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.788 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: 0.707 AC: 107435 AN: 151888 Hom.: 38347 Cov.: 31

Gnomad AFR AF: 0.795

Gnomad AMI AF: 0.662

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.704

Gnomad EAS AF: 0.693

Gnomad SAS AF: 0.626

Gnomad FIN AF: 0.737

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.668

Gnomad OTH AF: 0.679

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

GnomAD4 genome AF: 0.708 AC: 107546 AN: 152008 Hom.: 38396 Cov.: 31 AF XY: 0.710 AC XY: 52736 AN XY: 74276

Gnomad4 AFR AF: 0.796

Gnomad4 AMR AF: 0.663

Gnomad4 ASJ AF: 0.704

Gnomad4 EAS AF: 0.694

Gnomad4 SAS AF: 0.625

Gnomad4 FIN AF: 0.737

Gnomad4 NFE AF: 0.668

Gnomad4 OTH AF: 0.678

Alfa AF: 0.689 Hom.: 5860

Bravo AF: 0.707

Asia WGS AF: 0.658 AC: 2291 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.020
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9905385; hg19: chr17-59498250;