rs334438

Variant names:

• chr18-71366149-C-T
• rs334438

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 0.68 in 151,950 control chromosomes in the GnomAD database, including 36,289 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 0.68 (36289 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.749 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: 0.680 AC: 103244 AN: 151832 Hom.: 36290 Cov.: 33

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.826

Gnomad AMR AF: 0.746

Gnomad ASJ AF: 0.860

Gnomad EAS AF: 0.687

Gnomad SAS AF: 0.770

Gnomad FIN AF: 0.745

Gnomad MID AF: 0.873

Gnomad NFE AF: 0.749

Gnomad OTH AF: 0.728

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

GnomAD4 genome AF: 0.680 AC: 103278 AN: 151950 Hom.: 36289 Cov.: 33 AF XY: 0.683 AC XY: 50755 AN XY: 74288

African (AFR) AF: 0.492 AC: 20397 AN: 41458

American (AMR) AF: 0.746 AC: 11393 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.860 AC: 2985 AN: 3472

East Asian (EAS) AF: 0.687 AC: 3554 AN: 5176

South Asian (SAS) AF: 0.769 AC: 3712 AN: 4826

European-Finnish (FIN) AF: 0.745 AC: 7852 AN: 10546

Middle Eastern (MID) AF: 0.866 AC: 253 AN: 292

European-Non Finnish (NFE) AF: 0.749 AC: 50858 AN: 67896

Other (OTH) AF: 0.721 AC: 1521 AN: 2110

Alfa AF: 0.742 Hom.: 70598

Bravo AF: 0.673

Asia WGS AF: 0.724 AC: 2506 AN: 3456

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.69
DANN	Benign	0.43
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs334438; hg19: chr18-69033385;