rs721398

Variant names:

• chr8-18401795-A-G
• rs721398

Your query was ambiguous. Multiple possible variants found:

• chr8-18401795-A-G
• chr8-18401795-A-T

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 0.272 in 152,096 control chromosomes in the GnomAD database, including 5,822 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 0.27 (5822 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.598

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.62).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.349 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: 0.273 AC: 41450 AN: 151978 Hom.: 5825 Cov.: 33

Gnomad AFR AF: 0.256

Gnomad AMI AF: 0.352

Gnomad AMR AF: 0.207

Gnomad ASJ AF: 0.360

Gnomad EAS AF: 0.262

Gnomad SAS AF: 0.366

Gnomad FIN AF: 0.233

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.293

Gnomad OTH AF: 0.275

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

GnomAD4 genome AF: 0.272 AC: 41445 AN: 152096 Hom.: 5822 Cov.: 33 AF XY: 0.270 AC XY: 20079 AN XY: 74364

Gnomad4 AFR AF: 0.256

Gnomad4 AMR AF: 0.207

Gnomad4 ASJ AF: 0.360

Gnomad4 EAS AF: 0.263

Gnomad4 SAS AF: 0.363

Gnomad4 FIN AF: 0.233

Gnomad4 NFE AF: 0.292

Gnomad4 OTH AF: 0.273

Alfa AF: 0.287 Hom.: 9852

Bravo AF: 0.264

Asia WGS AF: 0.317 AC: 1103 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.62
CADD	Benign	3.3
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs721398; hg19: chr8-18259305;