8-127526579-A-G

Variant names:

• chr8-127526579-A-G
• rs8180905

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 0.908 in 152,184 control chromosomes in the GnomAD database, including 62,796 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 0.91 (62796 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.16
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.933 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.908 AC: 138043 AN: 152066 Hom.: 62749 Cov.: 31

Gnomad AFR AF: 0.941

Gnomad AMI AF: 0.902

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.854

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.956

Gnomad NFE AF: 0.900

Gnomad OTH AF: 0.918

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

GnomAD4 genome AF: 0.908 AC: 138147 AN: 152184 Hom.: 62796 Cov.: 31 AF XY: 0.905 AC XY: 67354 AN XY: 74392

African (AFR) AF: 0.941 AC: 39071 AN: 41528

American (AMR) AF: 0.926 AC: 14155 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.940 AC: 3264 AN: 3472

East Asian (EAS) AF: 0.854 AC: 4421 AN: 5174

South Asian (SAS) AF: 0.860 AC: 4141 AN: 4816

European-Finnish (FIN) AF: 0.836 AC: 8843 AN: 10584

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

European-Non Finnish (NFE) AF: 0.900 AC: 61216 AN: 68004

Other (OTH) AF: 0.914 AC: 1928 AN: 2110

Alfa AF: 0.848 Hom.: 5385

Bravo AF: 0.915

Asia WGS AF: 0.825 AC: 2873 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.053
DANN	Benign	0.35
PhyloP100		-3.2

Splicing

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

Other links and lift over

dbSNP: rs8180905; hg19: chr8-128538824;