rs12373190

Variant names:

• chr18-27762081-G-A
• rs12373190

Your query was ambiguous. Multiple possible variants found:

• chr18-27762081-G-A
• chr18-27762081-G-C

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 0.147 in 152,084 control chromosomes in the GnomAD database, including 3,090 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 0.15 (3090 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.751

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.365 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: 0.147 AC: 22282 AN: 151966 Hom.: 3074 Cov.: 32

Gnomad AFR AF: 0.369

Gnomad AMI AF: 0.0779

Gnomad AMR AF: 0.0732

Gnomad ASJ AF: 0.0536

Gnomad EAS AF: 0.103

Gnomad SAS AF: 0.0270

Gnomad FIN AF: 0.0474

Gnomad MID AF: 0.0285

Gnomad NFE AF: 0.0621

Gnomad OTH AF: 0.121

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

GnomAD4 genome AF: 0.147 AC: 22337 AN: 152084 Hom.: 3090 Cov.: 32 AF XY: 0.143 AC XY: 10604 AN XY: 74340

Gnomad4 AFR AF: 0.369

Gnomad4 AMR AF: 0.0731

Gnomad4 ASJ AF: 0.0536

Gnomad4 EAS AF: 0.103

Gnomad4 SAS AF: 0.0272

Gnomad4 FIN AF: 0.0474

Gnomad4 NFE AF: 0.0621

Gnomad4 OTH AF: 0.119

Alfa AF: 0.0667 Hom.: 454

Bravo AF: 0.161

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.33
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12373190; hg19: chr18-25342045;