chr18-27736850-A-G

Variant names:

• chr18-27736850-A-G
• rs2851758

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 0.305 in 151,798 control chromosomes in the GnomAD database, including 9,615 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 0.31 (9615 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.369
• Publications: 2 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 (AFR) allele frequency at 95% confidence interval = 0.588 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: 0.305 AC: 46270 AN: 151680 Hom.: 9574 Cov.: 31

Gnomad AFR AF: 0.594

Gnomad AMI AF: 0.225

Gnomad AMR AF: 0.173

Gnomad ASJ AF: 0.135

Gnomad EAS AF: 0.299

Gnomad SAS AF: 0.259

Gnomad FIN AF: 0.211

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.190

Gnomad OTH AF: 0.253

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

GnomAD4 genome AF: 0.305 AC: 46363 AN: 151798 Hom.: 9615 Cov.: 31 AF XY: 0.303 AC XY: 22500 AN XY: 74162

African (AFR) AF: 0.595 AC: 24600 AN: 41376

American (AMR) AF: 0.173 AC: 2636 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.135 AC: 469 AN: 3470

East Asian (EAS) AF: 0.299 AC: 1524 AN: 5104

South Asian (SAS) AF: 0.260 AC: 1248 AN: 4802

European-Finnish (FIN) AF: 0.211 AC: 2229 AN: 10554

Middle Eastern (MID) AF: 0.139 AC: 41 AN: 294

European-Non Finnish (NFE) AF: 0.190 AC: 12887 AN: 67938

Other (OTH) AF: 0.250 AC: 524 AN: 2098

Alfa AF: 0.225 Hom.: 16224

Bravo AF: 0.317

Asia WGS AF: 0.324 AC: 1126 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	1.4
DANN	Benign	0.48
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs2851758; hg19: chr18-25316814;