rs816750

Variant names:

• chr18-43192321-G-C
• rs816750

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 0.364 in 151,850 control chromosomes in the GnomAD database, including 12,461 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 0.36 (12461 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.112
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.69).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.506 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: 0.364 AC: 55289 AN: 151732 Hom.: 12463 Cov.: 31

Gnomad AFR AF: 0.115

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.370

Gnomad ASJ AF: 0.574

Gnomad EAS AF: 0.0897

Gnomad SAS AF: 0.417

Gnomad FIN AF: 0.409

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.511

Gnomad OTH AF: 0.435

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

GnomAD4 genome AF: 0.364 AC: 55280 AN: 151850 Hom.: 12461 Cov.: 31 AF XY: 0.360 AC XY: 26730 AN XY: 74202

African (AFR) AF: 0.115 AC: 4744 AN: 41414

American (AMR) AF: 0.370 AC: 5637 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.574 AC: 1992 AN: 3468

East Asian (EAS) AF: 0.0887 AC: 457 AN: 5150

South Asian (SAS) AF: 0.419 AC: 2022 AN: 4822

European-Finnish (FIN) AF: 0.409 AC: 4314 AN: 10538

Middle Eastern (MID) AF: 0.561 AC: 165 AN: 294

European-Non Finnish (NFE) AF: 0.511 AC: 34680 AN: 67898

Other (OTH) AF: 0.430 AC: 906 AN: 2108

Alfa AF: 0.416 Hom.: 1856

Bravo AF: 0.346

Asia WGS AF: 0.253 AC: 878 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.69
CADD	Benign	1.3
DANN	Benign	0.87
PhyloP100		0.11

Splicing

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

Other links and lift over

dbSNP: rs816750; hg19: chr18-40772286;