rs790314

Variant names:

• chr18-28832668-A-G
• rs790314

Your query was ambiguous. Multiple possible variants found:

• chr18-28832668-A-G
• chr18-28832668-A-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.587 in 152,012 control chromosomes in the GnomAD database, including 27,113 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 0.59 (27113 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.26

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.32).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.746 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: 0.586 AC: 89078 AN: 151892 Hom.: 27075 Cov.: 33

Gnomad AFR AF: 0.738

Gnomad AMI AF: 0.496

Gnomad AMR AF: 0.583

Gnomad ASJ AF: 0.427

Gnomad EAS AF: 0.767

Gnomad SAS AF: 0.603

Gnomad FIN AF: 0.532

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.500

Gnomad OTH AF: 0.532

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

GnomAD4 genome AF: 0.587 AC: 89172 AN: 152012 Hom.: 27113 Cov.: 33 AF XY: 0.589 AC XY: 43761 AN XY: 74270

Gnomad4 AFR AF: 0.738

Gnomad4 AMR AF: 0.583

Gnomad4 ASJ AF: 0.427

Gnomad4 EAS AF: 0.766

Gnomad4 SAS AF: 0.601

Gnomad4 FIN AF: 0.532

Gnomad4 NFE AF: 0.500

Gnomad4 OTH AF: 0.528

Alfa AF: 0.542 Hom.: 2725

Bravo AF: 0.594

Asia WGS AF: 0.666 AC: 2313 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.32
CADD	Benign	13
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs790314; hg19: chr18-26412633;