8-27852985-C-T

Variant names:

• chr8-27852985-C-T
• rs4585704
• ENST00000833971.1:n.78+8617C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000833971.1(ENSG00000308428):​n.78+8617C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. 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: ENSG00000308428 ENST00000833971.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.481
• Publications: 5 publications found

Genes affected

ENSG00000308428 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000833971.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000308428	ENST00000833971.1		n.78+8617C>T		intron	N/A

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

African (AFR) AF: 0.700 AC: 29018 AN: 41466

American (AMR) AF: 0.761 AC: 11629 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.656 AC: 2278 AN: 3470

East Asian (EAS) AF: 0.984 AC: 5094 AN: 5178

South Asian (SAS) AF: 0.668 AC: 3216 AN: 4812

European-Finnish (FIN) AF: 0.533 AC: 5627 AN: 10562

Middle Eastern (MID) AF: 0.585 AC: 172 AN: 294

European-Non Finnish (NFE) AF: 0.655 AC: 44499 AN: 67976

Other (OTH) AF: 0.679 AC: 1431 AN: 2108

Alfa AF: 0.686 Hom.: 6265

Bravo AF: 0.703

Asia WGS AF: 0.838 AC: 2914 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	4.3
DANN	Benign	0.60
PhyloP100		0.48

Splicing

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

Other links and lift over

dbSNP: rs4585704; hg19: chr8-27710502;