rs10814323

Variant names:

• chr9-36031613-G-A
• rs10814323

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 0.253 in 151,918 control chromosomes in the GnomAD database, including 5,404 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 (5404 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.170
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.365 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.253 AC: 38454 AN: 151800 Hom.: 5401 Cov.: 31

Gnomad AFR AF: 0.370

Gnomad AMI AF: 0.413

Gnomad AMR AF: 0.158

Gnomad ASJ AF: 0.211

Gnomad EAS AF: 0.210

Gnomad SAS AF: 0.178

Gnomad FIN AF: 0.236

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.217

Gnomad OTH AF: 0.226

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

GnomAD4 genome AF: 0.253 AC: 38483 AN: 151918 Hom.: 5404 Cov.: 31 AF XY: 0.250 AC XY: 18537 AN XY: 74282

African (AFR) AF: 0.370 AC: 15313 AN: 41402

American (AMR) AF: 0.158 AC: 2406 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.211 AC: 733 AN: 3468

East Asian (EAS) AF: 0.209 AC: 1079 AN: 5164

South Asian (SAS) AF: 0.177 AC: 850 AN: 4810

European-Finnish (FIN) AF: 0.236 AC: 2492 AN: 10546

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.217 AC: 14713 AN: 67954

Other (OTH) AF: 0.223 AC: 470 AN: 2108

Alfa AF: 0.222 Hom.: 17185

Bravo AF: 0.256

Asia WGS AF: 0.189 AC: 659 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.9
DANN	Benign	0.68
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs10814323; hg19: chr9-36031610;