rs9888325

Variant names:

• chr12-109599608-G-T
• rs9888325

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 0.485 in 152,062 control chromosomes in the GnomAD database, including 18,429 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 0.48 (18429 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.191

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 (NFE) allele frequency at 95% confidence interval = 0.529 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: 0.485 AC: 73674 AN: 151944 Hom.: 18414 Cov.: 33

Gnomad AFR AF: 0.479

Gnomad AMI AF: 0.586

Gnomad AMR AF: 0.407

Gnomad ASJ AF: 0.544

Gnomad EAS AF: 0.207

Gnomad SAS AF: 0.379

Gnomad FIN AF: 0.457

Gnomad MID AF: 0.561

Gnomad NFE AF: 0.533

Gnomad OTH AF: 0.517

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

GnomAD4 genome AF: 0.485 AC: 73739 AN: 152062 Hom.: 18429 Cov.: 33 AF XY: 0.477 AC XY: 35436 AN XY: 74334

Gnomad4 AFR AF: 0.479

Gnomad4 AMR AF: 0.407

Gnomad4 ASJ AF: 0.544

Gnomad4 EAS AF: 0.207

Gnomad4 SAS AF: 0.379

Gnomad4 FIN AF: 0.457

Gnomad4 NFE AF: 0.533

Gnomad4 OTH AF: 0.518

Alfa AF: 0.527 Hom.: 2785

Bravo AF: 0.483

Asia WGS AF: 0.313 AC: 1089 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	0.25
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9888325; hg19: chr12-110037413; COSMIC: COSV57332966;