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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.284 AC: 11774 AN: 41448

American (AMR) AF: 0.222 AC: 3396 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.159 AC: 552 AN: 3472

East Asian (EAS) AF: 0.366 AC: 1887 AN: 5158

South Asian (SAS) AF: 0.340 AC: 1638 AN: 4816

European-Finnish (FIN) AF: 0.255 AC: 2694 AN: 10572

Middle Eastern (MID) AF: 0.163 AC: 48 AN: 294

European-Non Finnish (NFE) AF: 0.242 AC: 16440 AN: 67988

Other (OTH) AF: 0.239 AC: 505 AN: 2112

Alfa AF: 0.238 Hom.: 12618

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
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs12455846; hg19: chr18-7384596;