rs1791303

Variant names:

• chr18-59787994-G-A
• rs1791303

Your query was ambiguous. Multiple possible variants found:

• chr18-59787994-G-A
• chr18-59787994-G-C
• chr18-59787994-G-T

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 151,934 control chromosomes in the GnomAD database, including 10,627 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 (10627 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.726
• Publications: 2 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 = 0.445 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: 55286 AN: 151816 Hom.: 10609 Cov.: 32

Gnomad AFR AF: 0.274

Gnomad AMI AF: 0.341

Gnomad AMR AF: 0.453

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.355

Gnomad SAS AF: 0.286

Gnomad FIN AF: 0.389

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.405

Gnomad OTH AF: 0.343

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

GnomAD4 genome AF: 0.364 AC: 55347 AN: 151934 Hom.: 10627 Cov.: 32 AF XY: 0.363 AC XY: 26963 AN XY: 74266

African (AFR) AF: 0.274 AC: 11356 AN: 41452

American (AMR) AF: 0.454 AC: 6918 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.323 AC: 1123 AN: 3472

East Asian (EAS) AF: 0.355 AC: 1819 AN: 5128

South Asian (SAS) AF: 0.285 AC: 1375 AN: 4824

European-Finnish (FIN) AF: 0.389 AC: 4105 AN: 10546

Middle Eastern (MID) AF: 0.364 AC: 107 AN: 294

European-Non Finnish (NFE) AF: 0.405 AC: 27519 AN: 67974

Other (OTH) AF: 0.339 AC: 715 AN: 2110

Alfa AF: 0.387 Hom.: 6348

Bravo AF: 0.367

Asia WGS AF: 0.322 AC: 1121 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.77
DANN	Benign	0.76
PhyloP100		-0.73

Splicing

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

Other links and lift over

dbSNP: rs1791303; hg19: chr18-57455226;