8-18231748-C-G

Variant names:

• chr8-18231748-C-G
• rs7829368

Variant summary

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

The variant allele was found at a frequency of 0.732 in 152,074 control chromosomes in the GnomAD database, including 41,846 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 0.73 (41846 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.96
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.908 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.732 AC: 111246 AN: 151956 Hom.: 41779 Cov.: 32

Gnomad AFR AF: 0.916

Gnomad AMI AF: 0.552

Gnomad AMR AF: 0.619

Gnomad ASJ AF: 0.720

Gnomad EAS AF: 0.520

Gnomad SAS AF: 0.660

Gnomad FIN AF: 0.695

Gnomad MID AF: 0.706

Gnomad NFE AF: 0.677

Gnomad OTH AF: 0.691

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

GnomAD4 genome AF: 0.732 AC: 111373 AN: 152074 Hom.: 41846 Cov.: 32 AF XY: 0.729 AC XY: 54159 AN XY: 74328

African (AFR) AF: 0.916 AC: 38042 AN: 41532

American (AMR) AF: 0.619 AC: 9451 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.720 AC: 2500 AN: 3470

East Asian (EAS) AF: 0.521 AC: 2689 AN: 5166

South Asian (SAS) AF: 0.661 AC: 3188 AN: 4820

European-Finnish (FIN) AF: 0.695 AC: 7349 AN: 10576

Middle Eastern (MID) AF: 0.711 AC: 209 AN: 294

European-Non Finnish (NFE) AF: 0.677 AC: 45979 AN: 67928

Other (OTH) AF: 0.693 AC: 1465 AN: 2114

Alfa AF: 0.589 Hom.: 1574

Bravo AF: 0.730

Asia WGS AF: 0.595 AC: 2069 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.27
DANN	Benign	0.42
PhyloP100		-3.0

Splicing

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

Other links and lift over

dbSNP: rs7829368; hg19: chr8-18089257;