8-127523390-A-G

Variant names:

• chr8-127523390-A-G
• rs7005132

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 150,100 control chromosomes in the GnomAD database, including 61,967 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 (61967 hom., cov: 25)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.75
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• 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: 136203 AN: 149990 Hom.: 61925 Cov.: 25

Gnomad AFR AF: 0.941

Gnomad AMI AF: 0.903

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.835

Gnomad MID AF: 0.956

Gnomad NFE AF: 0.900

Gnomad OTH AF: 0.920

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

GnomAD4 genome AF: 0.908 AC: 136297 AN: 150100 Hom.: 61967 Cov.: 25 AF XY: 0.906 AC XY: 66291 AN XY: 73194

African (AFR) AF: 0.941 AC: 38298 AN: 40700

American (AMR) AF: 0.926 AC: 14036 AN: 15160

Ashkenazi Jewish (ASJ) AF: 0.940 AC: 3256 AN: 3464

East Asian (EAS) AF: 0.853 AC: 4290 AN: 5028

South Asian (SAS) AF: 0.868 AC: 4087 AN: 4708

European-Finnish (FIN) AF: 0.835 AC: 8444 AN: 10118

Middle Eastern (MID) AF: 0.966 AC: 284 AN: 294

European-Non Finnish (NFE) AF: 0.900 AC: 60882 AN: 67644

Other (OTH) AF: 0.915 AC: 1902 AN: 2078

Alfa AF: 0.896 Hom.: 7225

Bravo AF: 0.915

Asia WGS AF: 0.824 AC: 2860 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.40
DANN	Benign	0.11
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs7005132; hg19: chr8-128535635;