chr8-127519628-G-A

Position:

• chr8-127519628-G-A

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 0.804 in 151,768 control chromosomes in the GnomAD database, including 49,813 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 0.80 (49813 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.424

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.875 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: 0.804 AC: 121927 AN: 151654 Hom.: 49792 Cov.: 32

Gnomad AFR AF: 0.650

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.841

Gnomad ASJ AF: 0.922

Gnomad EAS AF: 0.765

Gnomad SAS AF: 0.829

Gnomad FIN AF: 0.807

Gnomad MID AF: 0.899

Gnomad NFE AF: 0.881

Gnomad OTH AF: 0.843

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

GnomAD4 genome AF: 0.804 AC: 121991 AN: 151768 Hom.: 49813 Cov.: 32 AF XY: 0.802 AC XY: 59543 AN XY: 74202

Gnomad4 AFR AF: 0.651

Gnomad4 AMR AF: 0.840

Gnomad4 ASJ AF: 0.922

Gnomad4 EAS AF: 0.765

Gnomad4 SAS AF: 0.829

Gnomad4 FIN AF: 0.807

Gnomad4 NFE AF: 0.881

Gnomad4 OTH AF: 0.838

Alfa AF: 0.863 Hom.: 26832

Bravo AF: 0.797

Asia WGS AF: 0.745 AC: 2565 AN: 3438

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11988857; hg19: chr8-128531873;