8-127505328-A-G

Variant names:

• chr8-127505328-A-G
• rs4242382

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 119 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.673 AC: 27888 AN: 41444

American (AMR) AF: 0.904 AC: 13818 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.931 AC: 3234 AN: 3472

East Asian (EAS) AF: 0.841 AC: 4355 AN: 5176

South Asian (SAS) AF: 0.866 AC: 4161 AN: 4806

European-Finnish (FIN) AF: 0.838 AC: 8816 AN: 10522

Middle Eastern (MID) AF: 0.952 AC: 280 AN: 294

European-Non Finnish (NFE) AF: 0.900 AC: 61180 AN: 68006

Other (OTH) AF: 0.854 AC: 1803 AN: 2112

Alfa AF: 0.882 Hom.: 274094

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
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs4242382; hg19: chr8-128517573;