8-127507928-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 0.902 in 152,196 control chromosomes in the GnomAD database, including 61,998 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 0.90 (61998 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.609

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.912 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: 0.902 AC: 137189 AN: 152078 Hom.: 61954 Cov.: 32

Gnomad AFR AF: 0.918

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.925

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.852

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.839

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.916

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

GnomAD4 genome AF: 0.902 AC: 137290 AN: 152196 Hom.: 61998 Cov.: 32 AF XY: 0.899 AC XY: 66899 AN XY: 74386

Gnomad4 AFR AF: 0.918

Gnomad4 AMR AF: 0.925

Gnomad4 ASJ AF: 0.941

Gnomad4 EAS AF: 0.852

Gnomad4 SAS AF: 0.869

Gnomad4 FIN AF: 0.839

Gnomad4 NFE AF: 0.901

Gnomad4 OTH AF: 0.911

Alfa AF: 0.897 Hom.: 22535

Bravo AF: 0.907

Asia WGS AF: 0.823 AC: 2864 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	0.58
Dann	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7812429; hg19: chr8-128520173;