chr8-27596276-C-G

Position:

• chr8-27596276-C-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 0.0457 in 152,282 control chromosomes in the GnomAD database, including 192 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 0.046 (192 hom., cov: 31)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.848

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0715 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.27596276C>G		intergenic_region
LOC124901919	XR_007060868.1	n.1398-791C>G		intron_variant

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0456 AC: 6942 AN: 152164 Hom.: 191 Cov.: 31

Gnomad AFR AF: 0.0735

Gnomad AMI AF: 0.0252

Gnomad AMR AF: 0.0380

Gnomad ASJ AF: 0.0239

Gnomad EAS AF: 0.0147

Gnomad SAS AF: 0.0137

Gnomad FIN AF: 0.0182

Gnomad MID AF: 0.0191

Gnomad NFE AF: 0.0408

Gnomad OTH AF: 0.0459

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

GnomAD4 genome AF: 0.0457 AC: 6959 AN: 152282 Hom.: 192 Cov.: 31 AF XY: 0.0439 AC XY: 3265 AN XY: 74456

Gnomad4 AFR AF: 0.0737

Gnomad4 AMR AF: 0.0380

Gnomad4 ASJ AF: 0.0239

Gnomad4 EAS AF: 0.0147

Gnomad4 SAS AF: 0.0137

Gnomad4 FIN AF: 0.0182

Gnomad4 NFE AF: 0.0408

Gnomad4 OTH AF: 0.0454

Alfa AF: 0.00529 Hom.: 1

Bravo AF: 0.0487

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.71
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17057444; hg19: chr8-27453793;