18-10447044-A-G

Variant names:

• chr18-10447044-A-G
• rs2847351

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 0.33 in 151,974 control chromosomes in the GnomAD database, including 8,867 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 0.33 (8867 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.07

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.492 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: 0.330 AC: 50075 AN: 151856 Hom.: 8867 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.348

Gnomad AMR AF: 0.420

Gnomad ASJ AF: 0.381

Gnomad EAS AF: 0.507

Gnomad SAS AF: 0.511

Gnomad FIN AF: 0.427

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.330

Gnomad OTH AF: 0.334

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

GnomAD4 genome AF: 0.330 AC: 50093 AN: 151974 Hom.: 8867 Cov.: 32 AF XY: 0.341 AC XY: 25306 AN XY: 74268

Gnomad4 AFR AF: 0.222

Gnomad4 AMR AF: 0.420

Gnomad4 ASJ AF: 0.381

Gnomad4 EAS AF: 0.507

Gnomad4 SAS AF: 0.509

Gnomad4 FIN AF: 0.427

Gnomad4 NFE AF: 0.330

Gnomad4 OTH AF: 0.338

Alfa AF: 0.345 Hom.: 4459

Bravo AF: 0.324

Asia WGS AF: 0.503 AC: 1750 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	9.6
DANN	Benign	0.85

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2847351; hg19: chr18-10447041;