rs748283

chr8-27459678-C-A

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 0.431 in 164,308 control chromosomes in the GnomAD database, including 16,132 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 0.43 (14659 hom., cov: 33)
  • Exomes 𝑓: 0.48 (1473 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.488 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.426 AC: 64807 AN: 151964 Hom.: 14649 Cov.: 33

Gnomad AFR AF: 0.273

Gnomad AMI AF: 0.352

Gnomad AMR AF: 0.453

Gnomad ASJ AF: 0.656

Gnomad EAS AF: 0.345

Gnomad SAS AF: 0.421

Gnomad FIN AF: 0.523

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.492

Gnomad OTH AF: 0.481

GnomAD4 exome AF: 0.482 AC: 5898 AN: 12224 Hom.: 1473 AF XY: 0.481 AC XY: 2733 AN XY: 5680

Gnomad4 AFR exome AF: 0.324

Gnomad4 AMR exome AF: 0.465

Gnomad4 ASJ exome AF: 0.658

Gnomad4 EAS exome AF: 0.432

Gnomad4 SAS exome AF: 0.375

Gnomad4 FIN exome AF: 0.429

Gnomad4 NFE exome AF: 0.492

Gnomad4 OTH exome AF: 0.480

GnomAD4 genome AF: 0.426 AC: 64853 AN: 152084 Hom.: 14659 Cov.: 33 AF XY: 0.427 AC XY: 31757 AN XY: 74342

Gnomad4 AFR AF: 0.273

Gnomad4 AMR AF: 0.453

Gnomad4 ASJ AF: 0.656

Gnomad4 EAS AF: 0.345

Gnomad4 SAS AF: 0.419

Gnomad4 FIN AF: 0.523

Gnomad4 NFE AF: 0.492

Gnomad4 OTH AF: 0.485

Alfa AF: 0.463 Hom.: 2134

Bravo AF: 0.417

Asia WGS AF: 0.384 AC: 1335 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
Cadd	Benign	0.88
Dann	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs748283; hg19: chr8-27317195;