rs721398

Positions:

• 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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;