5-148825809-A-G

Variant names:

• chr5-148825809-A-G
• rs2053044

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 0.6 in 152,046 control chromosomes in the GnomAD database, including 27,782 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 0.60 (27775 hom., cov: 32)
  • Exomes 𝑓: 0.59 (7 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.863

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 (EAS) allele frequency at 95% confidence interval = 0.727 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: 0.600 AC: 91077 AN: 151896 Hom.: 27756 Cov.: 32

Gnomad AFR AF: 0.565

Gnomad AMI AF: 0.559

Gnomad AMR AF: 0.712

Gnomad ASJ AF: 0.615

Gnomad EAS AF: 0.748

Gnomad SAS AF: 0.743

Gnomad FIN AF: 0.632

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.567

Gnomad OTH AF: 0.627

GnomAD4 exome AF: 0.594 AC: 19 AN: 32 Hom.: 7 Cov.: 0 AF XY: 0.654 AC XY: 17 AN XY: 26

Gnomad4 AFR exome AF: 0.00

Gnomad4 SAS exome AF: 1.00

Gnomad4 FIN exome AF: 1.00

Gnomad4 NFE exome AF: 0.500

Gnomad4 OTH exome AF: 0.750

GnomAD4 genome AF: 0.600 AC: 91141 AN: 152014 Hom.: 27775 Cov.: 32 AF XY: 0.607 AC XY: 45098 AN XY: 74302

Gnomad4 AFR AF: 0.564

Gnomad4 AMR AF: 0.713

Gnomad4 ASJ AF: 0.615

Gnomad4 EAS AF: 0.747

Gnomad4 SAS AF: 0.744

Gnomad4 FIN AF: 0.632

Gnomad4 NFE AF: 0.567

Gnomad4 OTH AF: 0.633

Alfa AF: 0.568 Hom.: 10312

Bravo AF: 0.601

Asia WGS AF: 0.754 AC: 2618 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	8.8
DANN	Benign	0.67

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs2053044; hg19: chr5-148205372;