rs9315632

Variant names:

• chr13-38942490-G-T
• rs9315632

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 0.252 in 152,062 control chromosomes in the GnomAD database, including 5,577 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 0.25 (5577 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.840
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.384 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.252 AC: 38315 AN: 151942 Hom.: 5551 Cov.: 32

Gnomad AFR AF: 0.389

Gnomad AMI AF: 0.247

Gnomad AMR AF: 0.272

Gnomad ASJ AF: 0.222

Gnomad EAS AF: 0.235

Gnomad SAS AF: 0.280

Gnomad FIN AF: 0.142

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.184

Gnomad OTH AF: 0.238

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

GnomAD4 genome AF: 0.252 AC: 38393 AN: 152062 Hom.: 5577 Cov.: 32 AF XY: 0.252 AC XY: 18696 AN XY: 74328

African (AFR) AF: 0.389 AC: 16150 AN: 41470

American (AMR) AF: 0.273 AC: 4164 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.222 AC: 769 AN: 3470

East Asian (EAS) AF: 0.235 AC: 1215 AN: 5172

South Asian (SAS) AF: 0.280 AC: 1350 AN: 4818

European-Finnish (FIN) AF: 0.142 AC: 1503 AN: 10576

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.184 AC: 12479 AN: 67984

Other (OTH) AF: 0.236 AC: 499 AN: 2114

Alfa AF: 0.215 Hom.: 12724

Bravo AF: 0.270

Asia WGS AF: 0.279 AC: 972 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.79
DANN	Benign	0.64
PhyloP100		-0.84

Splicing

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

Other links and lift over

dbSNP: rs9315632; hg19: chr13-39516627;