chr8-127556467-A-G

Position:

• chr8-127556467-A-G

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 0.674 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.641

Gnomad4 AMR AF: 0.754

Gnomad4 ASJ AF: 0.661

Gnomad4 EAS AF: 0.964

Gnomad4 SAS AF: 0.790

Gnomad4 FIN AF: 0.642

Gnomad4 NFE AF: 0.653

Gnomad4 OTH AF: 0.648

Alfa AF: 0.660 Hom.: 51693

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7386167; hg19: chr8-128568712;