rs2864527

Positions:

• chr18-9288458-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BS1 BS2

The variant allele was found at a frequency of 0.0348 in 152,320 control chromosomes in the GnomAD database, including 116 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 0.035 (116 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.849

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BS1: Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0348 (5308/152320) while in subpopulation NFE AF= 0.0411 (2795/68032). AF 95% confidence interval is 0.0398. There are 116 homozygotes in gnomad4. There are 2452 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 116 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0348 AC: 5296 AN: 152202 Hom.: 115 Cov.: 33

Gnomad AFR AF: 0.0385

Gnomad AMI AF: 0.0680

Gnomad AMR AF: 0.0206

Gnomad ASJ AF: 0.0467

Gnomad EAS AF: 0.000192

Gnomad SAS AF: 0.0203

Gnomad FIN AF: 0.0173

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.0411

Gnomad OTH AF: 0.0354

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

GnomAD4 genome AF: 0.0348 AC: 5308 AN: 152320 Hom.: 116 Cov.: 33 AF XY: 0.0329 AC XY: 2452 AN XY: 74484

Gnomad4 AFR AF: 0.0387

Gnomad4 AMR AF: 0.0205

Gnomad4 ASJ AF: 0.0467

Gnomad4 EAS AF: 0.000193

Gnomad4 SAS AF: 0.0201

Gnomad4 FIN AF: 0.0173

Gnomad4 NFE AF: 0.0411

Gnomad4 OTH AF: 0.0350

Alfa AF: 0.0387 Hom.: 184

Bravo AF: 0.0351

Asia WGS AF: 0.00866 AC: 30 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.9
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2864527; hg19: chr18-9288456;