rs9332386

Variant names:

• chr14-32168596-T-C
• rs9332386

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 0.774 in 152,006 control chromosomes in the GnomAD database, including 46,080 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 0.77 (46080 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.824 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: 0.774 AC: 117613 AN: 151888 Hom.: 46047 Cov.: 30

Gnomad AFR AF: 0.813

Gnomad AMI AF: 0.821

Gnomad AMR AF: 0.581

Gnomad ASJ AF: 0.808

Gnomad EAS AF: 0.846

Gnomad SAS AF: 0.817

Gnomad FIN AF: 0.783

Gnomad MID AF: 0.877

Gnomad NFE AF: 0.781

Gnomad OTH AF: 0.791

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

GnomAD4 genome AF: 0.774 AC: 117697 AN: 152006 Hom.: 46080 Cov.: 30 AF XY: 0.771 AC XY: 57211 AN XY: 74248

African (AFR) AF: 0.813 AC: 33705 AN: 41458

American (AMR) AF: 0.580 AC: 8862 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.808 AC: 2806 AN: 3472

East Asian (EAS) AF: 0.845 AC: 4352 AN: 5152

South Asian (SAS) AF: 0.817 AC: 3935 AN: 4814

European-Finnish (FIN) AF: 0.783 AC: 8261 AN: 10556

Middle Eastern (MID) AF: 0.881 AC: 259 AN: 294

European-Non Finnish (NFE) AF: 0.781 AC: 53096 AN: 67970

Other (OTH) AF: 0.792 AC: 1672 AN: 2110

Alfa AF: 0.749 Hom.: 7785

Bravo AF: 0.759

Asia WGS AF: 0.838 AC: 2913 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.9
DANN	Benign	0.79
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs9332386; hg19: chr14-32637802;