rs7832031

chr8-127504707-A-Gchr8-127504707-A-T

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 0.912 in 152,068 control chromosomes in the GnomAD database, including 63,315 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 (63315 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.620

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.945 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.912 AC: 138525 AN: 151950 Hom.: 63266 Cov.: 30

Gnomad AFR AF: 0.952

Gnomad AMI AF: 0.903

Gnomad AMR AF: 0.929

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.843

Gnomad SAS AF: 0.867

Gnomad FIN AF: 0.839

Gnomad MID AF: 0.956

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.919

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

GnomAD4 genome AF: 0.912 AC: 138630 AN: 152068 Hom.: 63315 Cov.: 30 AF XY: 0.909 AC XY: 67526 AN XY: 74304

Gnomad4 AFR AF: 0.952

Gnomad4 AMR AF: 0.928

Gnomad4 ASJ AF: 0.941

Gnomad4 EAS AF: 0.843

Gnomad4 SAS AF: 0.867

Gnomad4 FIN AF: 0.839

Gnomad4 NFE AF: 0.901

Gnomad4 OTH AF: 0.914

Alfa AF: 0.908 Hom.: 66322

Bravo AF: 0.919

Asia WGS AF: 0.806 AC: 2806 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
Cadd	Benign	2.9
Dann	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7832031; hg19: chr8-128516952;