rs1893829

Variant names:

• chr18-77242359-A-G
• rs1893829

Your query was ambiguous. Multiple possible variants found:

• chr18-77242359-A-G
• chr18-77242359-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.74 in 152,002 control chromosomes in the GnomAD database, including 42,157 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 0.74 (42157 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.13

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.757 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: 0.740 AC: 112459 AN: 151884 Hom.: 42120 Cov.: 31

Gnomad AFR AF: 0.752

Gnomad AMI AF: 0.582

Gnomad AMR AF: 0.654

Gnomad ASJ AF: 0.919

Gnomad EAS AF: 0.579

Gnomad SAS AF: 0.671

Gnomad FIN AF: 0.729

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.763

Gnomad OTH AF: 0.772

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

GnomAD4 genome AF: 0.740 AC: 112545 AN: 152002 Hom.: 42157 Cov.: 31 AF XY: 0.738 AC XY: 54855 AN XY: 74318

Gnomad4 AFR AF: 0.753

Gnomad4 AMR AF: 0.653

Gnomad4 ASJ AF: 0.919

Gnomad4 EAS AF: 0.579

Gnomad4 SAS AF: 0.671

Gnomad4 FIN AF: 0.729

Gnomad4 NFE AF: 0.763

Gnomad4 OTH AF: 0.773

Alfa AF: 0.767 Hom.: 81383

Bravo AF: 0.739

Asia WGS AF: 0.652 AC: 2272 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	1.9
DANN	Benign	0.32

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1893829; hg19: chr18-74954315;