8-127507928-A-G

Variant names:

• chr8-127507928-A-G
• rs7812429

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;