rs1568237

Variant names:

• chr18-68100995-G-A
• rs1568237

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 0.545 in 151,826 control chromosomes in the GnomAD database, including 23,162 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 0.55 (23162 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.705 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: 0.545 AC: 82689 AN: 151706 Hom.: 23114 Cov.: 31

Gnomad AFR AF: 0.593

Gnomad AMI AF: 0.583

Gnomad AMR AF: 0.634

Gnomad ASJ AF: 0.645

Gnomad EAS AF: 0.706

Gnomad SAS AF: 0.725

Gnomad FIN AF: 0.404

Gnomad MID AF: 0.580

Gnomad NFE AF: 0.487

Gnomad OTH AF: 0.550

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

GnomAD4 genome AF: 0.545 AC: 82799 AN: 151826 Hom.: 23162 Cov.: 31 AF XY: 0.546 AC XY: 40519 AN XY: 74214

African (AFR) AF: 0.594 AC: 24571 AN: 41378

American (AMR) AF: 0.635 AC: 9675 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.645 AC: 2238 AN: 3472

East Asian (EAS) AF: 0.706 AC: 3641 AN: 5160

South Asian (SAS) AF: 0.725 AC: 3490 AN: 4814

European-Finnish (FIN) AF: 0.404 AC: 4249 AN: 10526

Middle Eastern (MID) AF: 0.568 AC: 167 AN: 294

European-Non Finnish (NFE) AF: 0.487 AC: 33065 AN: 67918

Other (OTH) AF: 0.554 AC: 1171 AN: 2114

Alfa AF: 0.517 Hom.: 9764

Bravo AF: 0.564

Asia WGS AF: 0.750 AC: 2608 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.84
DANN	Benign	0.29
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs1568237; hg19: chr18-65768232;