rs7822381

Variant names:

• chr8-75370593-A-C
• rs7822381

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 0.352 in 151,740 control chromosomes in the GnomAD database, including 10,964 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 0.35 (10964 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.58

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.55 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: 0.351 AC: 53241 AN: 151624 Hom.: 10930 Cov.: 31

Gnomad AFR AF: 0.556

Gnomad AMI AF: 0.202

Gnomad AMR AF: 0.362

Gnomad ASJ AF: 0.355

Gnomad EAS AF: 0.349

Gnomad SAS AF: 0.428

Gnomad FIN AF: 0.156

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.251

Gnomad OTH AF: 0.370

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

GnomAD4 genome AF: 0.352 AC: 53338 AN: 151740 Hom.: 10964 Cov.: 31 AF XY: 0.350 AC XY: 25973 AN XY: 74168

Gnomad4 AFR AF: 0.556

Gnomad4 AMR AF: 0.363

Gnomad4 ASJ AF: 0.355

Gnomad4 EAS AF: 0.350

Gnomad4 SAS AF: 0.428

Gnomad4 FIN AF: 0.156

Gnomad4 NFE AF: 0.251

Gnomad4 OTH AF: 0.372

Alfa AF: 0.215 Hom.: 2129

Bravo AF: 0.377

Asia WGS AF: 0.397 AC: 1381 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.84
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7822381; hg19: chr8-76282828;