8-130768547-A-T

Position:

• chr8-130768547-A-T

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 0.615 in 152,084 control chromosomes in the GnomAD database, including 29,593 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 0.61 (29593 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.235

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.717 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: 0.615 AC: 93429 AN: 151966 Hom.: 29573 Cov.: 33

Gnomad AFR AF: 0.723

Gnomad AMI AF: 0.852

Gnomad AMR AF: 0.548

Gnomad ASJ AF: 0.688

Gnomad EAS AF: 0.300

Gnomad SAS AF: 0.339

Gnomad FIN AF: 0.479

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.622

Gnomad OTH AF: 0.603

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

GnomAD4 genome AF: 0.615 AC: 93505 AN: 152084 Hom.: 29593 Cov.: 33 AF XY: 0.601 AC XY: 44687 AN XY: 74350

Gnomad4 AFR AF: 0.723

Gnomad4 AMR AF: 0.548

Gnomad4 ASJ AF: 0.688

Gnomad4 EAS AF: 0.300

Gnomad4 SAS AF: 0.337

Gnomad4 FIN AF: 0.479

Gnomad4 NFE AF: 0.622

Gnomad4 OTH AF: 0.603

Alfa AF: 0.513 Hom.: 1408

Bravo AF: 0.623

Asia WGS AF: 0.354 AC: 1235 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.9
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12545452; hg19: chr8-131780793;