rs932026

Variant names:

• chr18-38425547-G-A
• rs932026

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 0.137 in 152,100 control chromosomes in the GnomAD database, including 1,852 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 0.14 (1852 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.128
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.237 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: 0.137 AC: 20888 AN: 151982 Hom.: 1849 Cov.: 32

Gnomad AFR AF: 0.241

Gnomad AMI AF: 0.122

Gnomad AMR AF: 0.132

Gnomad ASJ AF: 0.104

Gnomad EAS AF: 0.179

Gnomad SAS AF: 0.177

Gnomad FIN AF: 0.0337

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0874

Gnomad OTH AF: 0.149

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

GnomAD4 genome AF: 0.137 AC: 20910 AN: 152100 Hom.: 1852 Cov.: 32 AF XY: 0.134 AC XY: 9987 AN XY: 74358

African (AFR) AF: 0.241 AC: 10002 AN: 41458

American (AMR) AF: 0.132 AC: 2020 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.104 AC: 361 AN: 3470

East Asian (EAS) AF: 0.179 AC: 925 AN: 5170

South Asian (SAS) AF: 0.178 AC: 856 AN: 4810

European-Finnish (FIN) AF: 0.0337 AC: 357 AN: 10602

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.0873 AC: 5936 AN: 67986

Other (OTH) AF: 0.148 AC: 312 AN: 2112

Alfa AF: 0.106 Hom.: 1776

Bravo AF: 0.148

Asia WGS AF: 0.193 AC: 673 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.4
DANN	Benign	0.55
PhyloP100		-0.13

Splicing

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

Other links and lift over

dbSNP: rs932026; hg19: chr18-36005511;