8-95752030-T-G

Variant names:

• chr8-95752030-T-G
• rs7817825
• ENST00000517437.2:n.268-48466T>G

Variant summary

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

The ENST00000517437.2(CFAP418-AS1):​n.268-48466T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.815 in 152,178 control chromosomes in the GnomAD database, including 50,667 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 0.81 (50667 hom., cov: 33)
• Consequence: CFAP418-AS1 ENST00000517437.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.729
• Publications: 2 publications found

Genes affected

CFAP418-AS1 (HGNC:50444): (CFAP418 antisense RNA 1)

ENSG00000301237 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.874 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000517437.2. 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
	CFAP418-AS1	NR_038201.1		n.316-48466T>G		intron	N/A
	CFAP418-AS1	NR_038202.1		n.245-48466T>G		intron	N/A
	CFAP418-AS1	NR_038203.1		n.161-48466T>G		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CFAP418-AS1	ENST00000517437.2	TSL:3	n.268-48466T>G		intron	N/A
	CFAP418-AS1	ENST00000655917.1		n.331-48466T>G		intron	N/A
	CFAP418-AS1	ENST00000664790.1		n.35-48466T>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.814 AC: 123847 AN: 152058 Hom.: 50608 Cov.: 33

Gnomad AFR AF: 0.881

Gnomad AMI AF: 0.679

Gnomad AMR AF: 0.821

Gnomad ASJ AF: 0.683

Gnomad EAS AF: 0.847

Gnomad SAS AF: 0.818

Gnomad FIN AF: 0.809

Gnomad MID AF: 0.772

Gnomad NFE AF: 0.779

Gnomad OTH AF: 0.807

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

GnomAD4 genome AF: 0.815 AC: 123969 AN: 152178 Hom.: 50667 Cov.: 33 AF XY: 0.817 AC XY: 60789 AN XY: 74380

African (AFR) AF: 0.881 AC: 36596 AN: 41530

American (AMR) AF: 0.821 AC: 12548 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.683 AC: 2370 AN: 3472

East Asian (EAS) AF: 0.847 AC: 4378 AN: 5166

South Asian (SAS) AF: 0.819 AC: 3949 AN: 4820

European-Finnish (FIN) AF: 0.809 AC: 8569 AN: 10590

Middle Eastern (MID) AF: 0.782 AC: 230 AN: 294

European-Non Finnish (NFE) AF: 0.779 AC: 53000 AN: 67998

Other (OTH) AF: 0.810 AC: 1710 AN: 2112

Alfa AF: 0.790 Hom.: 79106

Bravo AF: 0.819

Asia WGS AF: 0.836 AC: 2907 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	7.0
DANN	Benign	0.56
PhyloP100		0.73

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs7817825;

hg19: chr8-96764258;