chr8-127556467-A-G

Variant names:

• chr8-127556467-A-G
• rs7386167

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 0.674 in 152,072 control chromosomes in the GnomAD database, including 34,898 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 0.67 (34898 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.298
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.942 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: 0.674 AC: 102398 AN: 151954 Hom.: 34853 Cov.: 32

Gnomad AFR AF: 0.641

Gnomad AMI AF: 0.682

Gnomad AMR AF: 0.754

Gnomad ASJ AF: 0.661

Gnomad EAS AF: 0.964

Gnomad SAS AF: 0.788

Gnomad FIN AF: 0.642

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.653

Gnomad OTH AF: 0.643

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

GnomAD4 genome AF: 0.674 AC: 102498 AN: 152072 Hom.: 34898 Cov.: 32 AF XY: 0.680 AC XY: 50543 AN XY: 74334

African (AFR) AF: 0.641 AC: 26576 AN: 41480

American (AMR) AF: 0.754 AC: 11525 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.661 AC: 2293 AN: 3468

East Asian (EAS) AF: 0.964 AC: 4986 AN: 5170

South Asian (SAS) AF: 0.790 AC: 3806 AN: 4820

European-Finnish (FIN) AF: 0.642 AC: 6781 AN: 10560

Middle Eastern (MID) AF: 0.605 AC: 178 AN: 294

European-Non Finnish (NFE) AF: 0.653 AC: 44361 AN: 67972

Other (OTH) AF: 0.648 AC: 1370 AN: 2114

Alfa AF: 0.663 Hom.: 129232

Bravo AF: 0.680

Asia WGS AF: 0.869 AC: 3017 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.2
DANN	Benign	0.39
PhyloP100		-0.30

Splicing

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

Other links and lift over

dbSNP: rs7386167; hg19: chr8-128568712;