rs9314349

Variant names:

• chr8-27616685-A-G
• rs9314349

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 0.3 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
• Publications: 21 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 (NFE) allele frequency at 95% confidence interval = 0.379 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: 0.300 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

African (AFR) AF: 0.157 AC: 6510 AN: 41530

American (AMR) AF: 0.325 AC: 4974 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.279 AC: 968 AN: 3468

East Asian (EAS) AF: 0.146 AC: 755 AN: 5174

South Asian (SAS) AF: 0.286 AC: 1379 AN: 4816

European-Finnish (FIN) AF: 0.376 AC: 3966 AN: 10550

Middle Eastern (MID) AF: 0.327 AC: 96 AN: 294

European-Non Finnish (NFE) AF: 0.383 AC: 26031 AN: 67960

Other (OTH) AF: 0.305 AC: 645 AN: 2114

Alfa AF: 0.348 Hom.: 28742

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
PhyloP100		-0.67

Splicing

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

Other links and lift over

dbSNP: rs9314349; hg19: chr8-27474202;