rs12455846

Variant names:

• chr18-7384598-G-A
• rs12455846

Your query was ambiguous. Multiple possible variants found:

• chr18-7384598-G-A
• chr18-7384598-G-C
• chr18-7384598-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.257 in 152,048 control chromosomes in the GnomAD database, including 5,077 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 0.26 (5077 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.183

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.352 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: 0.257 AC: 39070 AN: 151930 Hom.: 5071 Cov.: 33

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.193

Gnomad AMR AF: 0.222

Gnomad ASJ AF: 0.159

Gnomad EAS AF: 0.366

Gnomad SAS AF: 0.340

Gnomad FIN AF: 0.255

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.242

Gnomad OTH AF: 0.237

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

GnomAD4 genome AF: 0.257 AC: 39110 AN: 152048 Hom.: 5077 Cov.: 33 AF XY: 0.259 AC XY: 19216 AN XY: 74328

Gnomad4 AFR AF: 0.284

Gnomad4 AMR AF: 0.222

Gnomad4 ASJ AF: 0.159

Gnomad4 EAS AF: 0.366

Gnomad4 SAS AF: 0.340

Gnomad4 FIN AF: 0.255

Gnomad4 NFE AF: 0.242

Gnomad4 OTH AF: 0.239

Alfa AF: 0.233 Hom.: 7604

Bravo AF: 0.254

Asia WGS AF: 0.326 AC: 1133 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	8.4
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12455846; hg19: chr18-7384596;