rs2032224

Variant names:

• chr18-63509033-C-A
• rs2032224

Your query was ambiguous. Multiple possible variants found:

• chr18-63509033-C-A
• chr18-63509033-C-G
• chr18-63509033-C-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 0.57 in 152,138 control chromosomes in the GnomAD database, including 27,286 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 0.57 (27286 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.26

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.784 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: 0.570 AC: 86680 AN: 152018 Hom.: 27279 Cov.: 33

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.815

Gnomad AMR AF: 0.612

Gnomad ASJ AF: 0.688

Gnomad EAS AF: 0.804

Gnomad SAS AF: 0.578

Gnomad FIN AF: 0.720

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.682

Gnomad OTH AF: 0.613

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

GnomAD4 genome AF: 0.570 AC: 86707 AN: 152138 Hom.: 27286 Cov.: 33 AF XY: 0.576 AC XY: 42807 AN XY: 74366

Gnomad4 AFR AF: 0.284

Gnomad4 AMR AF: 0.611

Gnomad4 ASJ AF: 0.688

Gnomad4 EAS AF: 0.804

Gnomad4 SAS AF: 0.579

Gnomad4 FIN AF: 0.720

Gnomad4 NFE AF: 0.682

Gnomad4 OTH AF: 0.617

Alfa AF: 0.667 Hom.: 45148

Bravo AF: 0.549

Asia WGS AF: 0.666 AC: 2314 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.084
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2032224; hg19: chr18-61176266;