rs9314349

chr8-27616685-A-G

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 0.3 in 152,108 control chromosomes in the GnomAD database, including 7,678 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 0.30 (7678 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.670

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.379 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.300 AC: 45581 AN: 151990 Hom.: 7673 Cov.: 32

Gnomad AFR AF: 0.157

Gnomad AMI AF: 0.306

Gnomad AMR AF: 0.326

Gnomad ASJ AF: 0.279

Gnomad EAS AF: 0.147

Gnomad SAS AF: 0.285

Gnomad FIN AF: 0.376

Gnomad MID AF: 0.323

Gnomad NFE AF: 0.383

Gnomad OTH AF: 0.302

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

GnomAD4 genome AF: 0.300 AC: 45603 AN: 152108 Hom.: 7678 Cov.: 32 AF XY: 0.300 AC XY: 22284 AN XY: 74334

Gnomad4 AFR AF: 0.157

Gnomad4 AMR AF: 0.325

Gnomad4 ASJ AF: 0.279

Gnomad4 EAS AF: 0.146

Gnomad4 SAS AF: 0.286

Gnomad4 FIN AF: 0.376

Gnomad4 NFE AF: 0.383

Gnomad4 OTH AF: 0.305

Alfa AF: 0.361 Hom.: 12277

Bravo AF: 0.288

Asia WGS AF: 0.239 AC: 830 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	0.89
Dann	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9314349; hg19: chr8-27474202;