rs748065

chr8-21820591-A-G

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 0.361 in 152,048 control chromosomes in the GnomAD database, including 10,385 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 0.36 (10385 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.435

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.548 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: 0.360 AC: 54761 AN: 151930 Hom.: 10371 Cov.: 32

Gnomad AFR AF: 0.425

Gnomad AMI AF: 0.172

Gnomad AMR AF: 0.406

Gnomad ASJ AF: 0.200

Gnomad EAS AF: 0.566

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.377

Gnomad MID AF: 0.225

Gnomad NFE AF: 0.306

Gnomad OTH AF: 0.326

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

GnomAD4 genome AF: 0.361 AC: 54829 AN: 152048 Hom.: 10385 Cov.: 32 AF XY: 0.367 AC XY: 27298 AN XY: 74328

Gnomad4 AFR AF: 0.425

Gnomad4 AMR AF: 0.407

Gnomad4 ASJ AF: 0.200

Gnomad4 EAS AF: 0.565

Gnomad4 SAS AF: 0.349

Gnomad4 FIN AF: 0.377

Gnomad4 NFE AF: 0.306

Gnomad4 OTH AF: 0.327

Alfa AF: 0.309 Hom.: 15426

Bravo AF: 0.364

Asia WGS AF: 0.478 AC: 1664 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	0.67
Dann	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs748065; hg19: chr8-21678103;