8-128257220-A-G

Position:

• chr8-128257220-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 0.41 in 152,146 control chromosomes in the GnomAD database, including 14,419 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 0.41 (14419 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.769

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.514 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: 0.410 AC: 62267 AN: 152028 Hom.: 14414 Cov.: 33

Gnomad AFR AF: 0.232

Gnomad AMI AF: 0.522

Gnomad AMR AF: 0.421

Gnomad ASJ AF: 0.390

Gnomad EAS AF: 0.0536

Gnomad SAS AF: 0.306

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.414

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

GnomAD4 genome AF: 0.410 AC: 62304 AN: 152146 Hom.: 14419 Cov.: 33 AF XY: 0.409 AC XY: 30430 AN XY: 74366

Gnomad4 AFR AF: 0.232

Gnomad4 AMR AF: 0.421

Gnomad4 ASJ AF: 0.390

Gnomad4 EAS AF: 0.0535

Gnomad4 SAS AF: 0.308

Gnomad4 FIN AF: 0.608

Gnomad4 NFE AF: 0.518

Gnomad4 OTH AF: 0.411

Alfa AF: 0.483 Hom.: 26394

Bravo AF: 0.386

Asia WGS AF: 0.184 AC: 642 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	14
DANN	Benign	0.88

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4733601; hg19: chr8-129269466;