8-48321512-T-G

Position:

• chr8-48321512-T-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 0.671 in 152,082 control chromosomes in the GnomAD database, including 35,738 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 0.67 (35738 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.543

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.759 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.671 AC: 102024 AN: 151964 Hom.: 35727 Cov.: 32

Gnomad AFR AF: 0.464

Gnomad AMI AF: 0.637

Gnomad AMR AF: 0.753

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.592

Gnomad SAS AF: 0.680

Gnomad FIN AF: 0.832

Gnomad MID AF: 0.642

Gnomad NFE AF: 0.764

Gnomad OTH AF: 0.667

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

GnomAD4 genome AF: 0.671 AC: 102066 AN: 152082 Hom.: 35738 Cov.: 32 AF XY: 0.676 AC XY: 50232 AN XY: 74356

Gnomad4 AFR AF: 0.464

Gnomad4 AMR AF: 0.754

Gnomad4 ASJ AF: 0.588

Gnomad4 EAS AF: 0.593

Gnomad4 SAS AF: 0.680

Gnomad4 FIN AF: 0.832

Gnomad4 NFE AF: 0.764

Gnomad4 OTH AF: 0.662

Alfa AF: 0.710 Hom.: 8245

Bravo AF: 0.655

Asia WGS AF: 0.592 AC: 2060 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.9
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1027966; hg19: chr8-49234072;