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. The variant received -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
• Publications: 9 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.256 AC: 10601 AN: 41474

American (AMR) AF: 0.207 AC: 3158 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.360 AC: 1248 AN: 3470

East Asian (EAS) AF: 0.263 AC: 1357 AN: 5164

South Asian (SAS) AF: 0.363 AC: 1752 AN: 4822

European-Finnish (FIN) AF: 0.233 AC: 2466 AN: 10578

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.292 AC: 19887 AN: 67990

Other (OTH) AF: 0.273 AC: 576 AN: 2110

Alfa AF: 0.281 Hom.: 15131

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
PhyloP100		0.60

Splicing

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

Other links and lift over

dbSNP: rs721398; hg19: chr8-18259305;