8-127488905-A-G

Variant names:

• chr8-127488905-A-G
• rs10808558

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 0.898 in 152,124 control chromosomes in the GnomAD database, including 61,447 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 (61447 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.246
• Publications: 11 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.913 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.898 AC: 136537 AN: 152008 Hom.: 61401 Cov.: 32

Gnomad AFR AF: 0.906

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.839

Gnomad SAS AF: 0.867

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.900

Gnomad OTH AF: 0.910

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

GnomAD4 genome AF: 0.898 AC: 136638 AN: 152124 Hom.: 61447 Cov.: 32 AF XY: 0.896 AC XY: 66585 AN XY: 74350

African (AFR) AF: 0.907 AC: 37644 AN: 41526

American (AMR) AF: 0.925 AC: 14140 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.940 AC: 3265 AN: 3472

East Asian (EAS) AF: 0.839 AC: 4347 AN: 5180

South Asian (SAS) AF: 0.867 AC: 4174 AN: 4812

European-Finnish (FIN) AF: 0.836 AC: 8801 AN: 10524

Middle Eastern (MID) AF: 0.969 AC: 285 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 61248 AN: 68014

Other (OTH) AF: 0.905 AC: 1910 AN: 2110

Alfa AF: 0.894 Hom.: 22573

Bravo AF: 0.904

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.45
PhyloP100		-0.25

Splicing

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

Other links and lift over

dbSNP: rs10808558; hg19: chr8-128501150;