chr8-127505328-A-G

Position:

• chr8-127505328-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 0.831 in 152,036 control chromosomes in the GnomAD database, including 53,343 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 0.83 (53343 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.157

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.894 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: 0.831 AC: 126265 AN: 151918 Hom.: 53306 Cov.: 31

Gnomad AFR AF: 0.672

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.904

Gnomad ASJ AF: 0.931

Gnomad EAS AF: 0.841

Gnomad SAS AF: 0.865

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.943

Gnomad NFE AF: 0.900

Gnomad OTH AF: 0.859

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

GnomAD4 genome AF: 0.831 AC: 126359 AN: 152036 Hom.: 53343 Cov.: 31 AF XY: 0.832 AC XY: 61797 AN XY: 74294

Gnomad4 AFR AF: 0.673

Gnomad4 AMR AF: 0.904

Gnomad4 ASJ AF: 0.931

Gnomad4 EAS AF: 0.841

Gnomad4 SAS AF: 0.866

Gnomad4 FIN AF: 0.838

Gnomad4 NFE AF: 0.900

Gnomad4 OTH AF: 0.854

Alfa AF: 0.893 Hom.: 135439

Bravo AF: 0.827

Asia WGS AF: 0.791 AC: 2753 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.46
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4242382; hg19: chr8-128517573;