rs9911630

Positions:

• chr17-43036325-A-G

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 0.451 in 151,822 control chromosomes in the GnomAD database, including 17,453 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 0.45 (17453 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.507

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.695 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.450 AC: 68312 AN: 151704 Hom.: 17409 Cov.: 31

Gnomad AFR AF: 0.701

Gnomad AMI AF: 0.280

Gnomad AMR AF: 0.322

Gnomad ASJ AF: 0.365

Gnomad EAS AF: 0.372

Gnomad SAS AF: 0.524

Gnomad FIN AF: 0.406

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.342

Gnomad OTH AF: 0.424

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

GnomAD4 genome AF: 0.451 AC: 68403 AN: 151822 Hom.: 17453 Cov.: 31 AF XY: 0.452 AC XY: 33502 AN XY: 74186

Gnomad4 AFR AF: 0.702

Gnomad4 AMR AF: 0.321

Gnomad4 ASJ AF: 0.365

Gnomad4 EAS AF: 0.371

Gnomad4 SAS AF: 0.523

Gnomad4 FIN AF: 0.406

Gnomad4 NFE AF: 0.342

Gnomad4 OTH AF: 0.427

Alfa AF: 0.353 Hom.: 20180

Bravo AF: 0.450

Asia WGS AF: 0.462 AC: 1609 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.84
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9911630; hg19: chr17-41188342;