rs7822381

Variant names:

• chr8-75370593-A-C
• rs7822381

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 0.352 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.556 AC: 22961 AN: 41294

American (AMR) AF: 0.363 AC: 5522 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.355 AC: 1232 AN: 3466

East Asian (EAS) AF: 0.350 AC: 1793 AN: 5122

South Asian (SAS) AF: 0.428 AC: 2055 AN: 4804

European-Finnish (FIN) AF: 0.156 AC: 1652 AN: 10578

Middle Eastern (MID) AF: 0.469 AC: 137 AN: 292

European-Non Finnish (NFE) AF: 0.251 AC: 17017 AN: 67932

Other (OTH) AF: 0.372 AC: 785 AN: 2110

Alfa AF: 0.206 Hom.: 2362

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
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs7822381; hg19: chr8-76282828;