18-22426997-C-G

Variant names:

• chr18-22426997-C-G
• rs948384

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 0.438 in 151,988 control chromosomes in the GnomAD database, including 15,702 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 0.44 (15702 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.322
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.536 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.438 AC: 66485 AN: 151872 Hom.: 15697 Cov.: 32

Gnomad AFR AF: 0.248

Gnomad AMI AF: 0.542

Gnomad AMR AF: 0.545

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.485

Gnomad SAS AF: 0.380

Gnomad FIN AF: 0.557

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.511

Gnomad OTH AF: 0.418

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

GnomAD4 genome AF: 0.438 AC: 66517 AN: 151988 Hom.: 15702 Cov.: 32 AF XY: 0.438 AC XY: 32530 AN XY: 74260

African (AFR) AF: 0.248 AC: 10275 AN: 41484

American (AMR) AF: 0.546 AC: 8333 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.424 AC: 1471 AN: 3472

East Asian (EAS) AF: 0.485 AC: 2496 AN: 5150

South Asian (SAS) AF: 0.382 AC: 1843 AN: 4824

European-Finnish (FIN) AF: 0.557 AC: 5862 AN: 10528

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.511 AC: 34755 AN: 67960

Other (OTH) AF: 0.417 AC: 880 AN: 2110

Alfa AF: 0.361 Hom.: 1076

Bravo AF: 0.431

Asia WGS AF: 0.382 AC: 1327 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	12
DANN	Benign	0.76
PhyloP100		0.32

Splicing

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

Other links and lift over

dbSNP: rs948384; hg19: chr18-20006960;