rs7818556

Variant names:

• chr8-127472154-G-A
• rs7818556
• ENST00000502056.1:n.1041+6929C>T

Your query was ambiguous. Multiple possible variants found:

• chr8-127472154-G-A
• chr8-127472154-G-T

Variant summary

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

The ENST00000502056.1(CASC8):​n.1041+6929C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.827 in 151,978 control chromosomes in the GnomAD database, including 52,847 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 0.83 (52847 hom., cov: 30)
• Consequence: CASC8 ENST00000502056.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.124
• Publications: 11 publications found

Genes affected

CASC8 (HGNC:45129): (cancer susceptibility 8)

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 (NFE) allele frequency at 95% confidence interval = 0.893 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000502056.1. 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
	CASC8	NR_024393.1		n.1041+6929C>T		intron	N/A
	CASC8	NR_117100.1		n.1041+6929C>T		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CASC8	ENST00000502056.1	TSL:1	n.1041+6929C>T		intron	N/A
	CASC8	ENST00000502082.5	TSL:1	n.1041+6929C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.828 AC: 125700 AN: 151860 Hom.: 52832 Cov.: 30

Gnomad AFR AF: 0.665

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.894

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.849

Gnomad SAS AF: 0.870

Gnomad FIN AF: 0.825

Gnomad MID AF: 0.943

Gnomad NFE AF: 0.899

Gnomad OTH AF: 0.858

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

GnomAD4 genome AF: 0.827 AC: 125755 AN: 151978 Hom.: 52847 Cov.: 30 AF XY: 0.827 AC XY: 61438 AN XY: 74298

African (AFR) AF: 0.665 AC: 27493 AN: 41358

American (AMR) AF: 0.894 AC: 13658 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.940 AC: 3265 AN: 3472

East Asian (EAS) AF: 0.849 AC: 4398 AN: 5180

South Asian (SAS) AF: 0.871 AC: 4191 AN: 4810

European-Finnish (FIN) AF: 0.825 AC: 8709 AN: 10558

Middle Eastern (MID) AF: 0.952 AC: 280 AN: 294

European-Non Finnish (NFE) AF: 0.899 AC: 61135 AN: 68006

Other (OTH) AF: 0.853 AC: 1802 AN: 2112

Alfa AF: 0.869 Hom.: 30935

Bravo AF: 0.823

Asia WGS AF: 0.796 AC: 2769 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	0.61
DANN	Benign	0.46
PhyloP100		-0.12

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: rs7818556;

hg19: chr8-128484399;