rs1944423

chr18-63323285-A-G

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 0.629 in 151,996 control chromosomes in the GnomAD database, including 31,453 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 0.63 (31453 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.929

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.717 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.629 AC: 95532 AN: 151878 Hom.: 31445 Cov.: 31

Gnomad AFR AF: 0.453

Gnomad AMI AF: 0.841

Gnomad AMR AF: 0.726

Gnomad ASJ AF: 0.711

Gnomad EAS AF: 0.407

Gnomad SAS AF: 0.448

Gnomad FIN AF: 0.714

Gnomad MID AF: 0.706

Gnomad NFE AF: 0.722

Gnomad OTH AF: 0.671

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

GnomAD4 genome AF: 0.629 AC: 95583 AN: 151996 Hom.: 31453 Cov.: 31 AF XY: 0.629 AC XY: 46707 AN XY: 74304

Gnomad4 AFR AF: 0.453

Gnomad4 AMR AF: 0.726

Gnomad4 ASJ AF: 0.711

Gnomad4 EAS AF: 0.406

Gnomad4 SAS AF: 0.450

Gnomad4 FIN AF: 0.714

Gnomad4 NFE AF: 0.722

Gnomad4 OTH AF: 0.667

Alfa AF: 0.646 Hom.: 4647

Bravo AF: 0.630

Asia WGS AF: 0.431 AC: 1502 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
Cadd	Benign	0.58
Dann	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1944423; hg19: chr18-60990518;