rs1944423

Variant names:

• chr18-63323285-A-G
• rs1944423

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 0.629 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
• Publications: 10 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.453 AC: 18756 AN: 41416

American (AMR) AF: 0.726 AC: 11088 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.711 AC: 2467 AN: 3472

East Asian (EAS) AF: 0.406 AC: 2100 AN: 5170

South Asian (SAS) AF: 0.450 AC: 2164 AN: 4814

European-Finnish (FIN) AF: 0.714 AC: 7524 AN: 10538

Middle Eastern (MID) AF: 0.697 AC: 205 AN: 294

European-Non Finnish (NFE) AF: 0.722 AC: 49103 AN: 67988

Other (OTH) AF: 0.667 AC: 1409 AN: 2112

Alfa AF: 0.638 Hom.: 4713

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
PhyloP100		-0.93

Splicing

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

Other links and lift over

dbSNP: rs1944423; hg19: chr18-60990518;