8-127523390-A-G

Variant names:

• chr8-127523390-A-G
• rs7005132

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 0.908 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.908 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

Gnomad4 AFR AF: 0.941

Gnomad4 AMR AF: 0.926

Gnomad4 ASJ AF: 0.940

Gnomad4 EAS AF: 0.853

Gnomad4 SAS AF: 0.868

Gnomad4 FIN AF: 0.835

Gnomad4 NFE AF: 0.900

Gnomad4 OTH AF: 0.915

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7005132; hg19: chr8-128535635;