18-30213665-A-G

Variant names:

• chr18-30213665-A-G
• rs7240797

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 0.23 in 152,002 control chromosomes in the GnomAD database, including 4,231 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 0.23 (4231 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.304
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.355 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: 0.230 AC: 35004 AN: 151884 Hom.: 4228 Cov.: 32

Gnomad AFR AF: 0.206

Gnomad AMI AF: 0.182

Gnomad AMR AF: 0.184

Gnomad ASJ AF: 0.130

Gnomad EAS AF: 0.369

Gnomad SAS AF: 0.251

Gnomad FIN AF: 0.288

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.242

Gnomad OTH AF: 0.201

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

GnomAD4 genome AF: 0.230 AC: 35033 AN: 152002 Hom.: 4231 Cov.: 32 AF XY: 0.233 AC XY: 17339 AN XY: 74276

African (AFR) AF: 0.207 AC: 8569 AN: 41470

American (AMR) AF: 0.184 AC: 2812 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.130 AC: 451 AN: 3470

East Asian (EAS) AF: 0.369 AC: 1900 AN: 5154

South Asian (SAS) AF: 0.252 AC: 1214 AN: 4824

European-Finnish (FIN) AF: 0.288 AC: 3039 AN: 10542

Middle Eastern (MID) AF: 0.105 AC: 31 AN: 294

European-Non Finnish (NFE) AF: 0.242 AC: 16430 AN: 67954

Other (OTH) AF: 0.200 AC: 421 AN: 2108

Alfa AF: 0.225 Hom.: 2676

Bravo AF: 0.220

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.6
DANN	Benign	0.63
PhyloP100		0.30

Splicing

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

Other links and lift over

dbSNP: rs7240797; hg19: chr18-27793630;