18-50317164-A-G

Variant names:

• chr18-50317164-A-G
• rs1036935

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 0.76 in 152,086 control chromosomes in the GnomAD database, including 44,170 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 0.76 (44170 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.58
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.894 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: 0.760 AC: 115540 AN: 151968 Hom.: 44138 Cov.: 32

Gnomad AFR AF: 0.693

Gnomad AMI AF: 0.885

Gnomad AMR AF: 0.827

Gnomad ASJ AF: 0.747

Gnomad EAS AF: 0.915

Gnomad SAS AF: 0.757

Gnomad FIN AF: 0.723

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.779

Gnomad OTH AF: 0.769

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

GnomAD4 genome AF: 0.760 AC: 115630 AN: 152086 Hom.: 44170 Cov.: 32 AF XY: 0.759 AC XY: 56441 AN XY: 74332

African (AFR) AF: 0.693 AC: 28732 AN: 41464

American (AMR) AF: 0.827 AC: 12639 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.747 AC: 2595 AN: 3472

East Asian (EAS) AF: 0.915 AC: 4738 AN: 5176

South Asian (SAS) AF: 0.757 AC: 3647 AN: 4818

European-Finnish (FIN) AF: 0.723 AC: 7633 AN: 10560

Middle Eastern (MID) AF: 0.745 AC: 219 AN: 294

European-Non Finnish (NFE) AF: 0.779 AC: 52990 AN: 67990

Other (OTH) AF: 0.770 AC: 1630 AN: 2116

Alfa AF: 0.780 Hom.: 146542

Bravo AF: 0.767

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.95
DANN	Benign	0.44
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs1036935; hg19: chr18-47843534;