chr8-18231748-C-G

Variant names:

• chr8-18231748-C-G
• rs7829368

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 0.732 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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.916

Gnomad4 AMR AF: 0.619

Gnomad4 ASJ AF: 0.720

Gnomad4 EAS AF: 0.521

Gnomad4 SAS AF: 0.661

Gnomad4 FIN AF: 0.695

Gnomad4 NFE AF: 0.677

Gnomad4 OTH AF: 0.693

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7829368; hg19: chr8-18089257;