rs9911630

Variant names:

• chr17-43036325-A-G
• rs9911630

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 33 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.702 AC: 29050 AN: 41408

American (AMR) AF: 0.321 AC: 4905 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.365 AC: 1267 AN: 3468

East Asian (EAS) AF: 0.371 AC: 1910 AN: 5148

South Asian (SAS) AF: 0.523 AC: 2515 AN: 4810

European-Finnish (FIN) AF: 0.406 AC: 4277 AN: 10532

Middle Eastern (MID) AF: 0.418 AC: 123 AN: 294

European-Non Finnish (NFE) AF: 0.342 AC: 23201 AN: 67882

Other (OTH) AF: 0.427 AC: 901 AN: 2110

Alfa AF: 0.372 Hom.: 36634

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
PhyloP100		-0.51

Splicing

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

Other links and lift over

dbSNP: rs9911630; hg19: chr17-41188342;