chr8-127504707-A-G

Variant names:

• chr8-127504707-A-G
• rs7832031

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 0.912 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
• Publications: 12 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.952 AC: 39507 AN: 41478

American (AMR) AF: 0.928 AC: 14188 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.941 AC: 3262 AN: 3468

East Asian (EAS) AF: 0.843 AC: 4347 AN: 5158

South Asian (SAS) AF: 0.867 AC: 4176 AN: 4816

European-Finnish (FIN) AF: 0.839 AC: 8823 AN: 10516

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

European-Non Finnish (NFE) AF: 0.901 AC: 61288 AN: 68026

Other (OTH) AF: 0.914 AC: 1933 AN: 2116

Alfa AF: 0.908 Hom.: 97906

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
PhyloP100		0.62

Splicing

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

Other links and lift over

dbSNP: rs7832031; hg19: chr8-128516952;