8-27852985-C-T

Position:

• chr8-27852985-C-T

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 0.681 in 152,062 control chromosomes in the GnomAD database, including 35,675 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 0.68 (35675 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.481

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.961 is higher than 0.05.

Transcripts

RefSeq

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

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.681 AC: 103459 AN: 151944 Hom.: 35639 Cov.: 33

Gnomad AFR AF: 0.700

Gnomad AMI AF: 0.641

Gnomad AMR AF: 0.760

Gnomad ASJ AF: 0.656

Gnomad EAS AF: 0.984

Gnomad SAS AF: 0.670

Gnomad FIN AF: 0.533

Gnomad MID AF: 0.585

Gnomad NFE AF: 0.655

Gnomad OTH AF: 0.675

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

GnomAD4 genome AF: 0.681 AC: 103547 AN: 152062 Hom.: 35675 Cov.: 33 AF XY: 0.676 AC XY: 50238 AN XY: 74314

Gnomad4 AFR AF: 0.700

Gnomad4 AMR AF: 0.761

Gnomad4 ASJ AF: 0.656

Gnomad4 EAS AF: 0.984

Gnomad4 SAS AF: 0.668

Gnomad4 FIN AF: 0.533

Gnomad4 NFE AF: 0.655

Gnomad4 OTH AF: 0.679

Alfa AF: 0.686 Hom.: 6072

Bravo AF: 0.703

Asia WGS AF: 0.838 AC: 2914 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	4.3
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4585704; hg19: chr8-27710502;