rs79323383

Variant names:

• chr8-120839185-T-G
• rs79323383

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 0.0499 in 152,230 control chromosomes in the GnomAD database, including 422 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 0.050 (422 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.588

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.159 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: 0.0498 AC: 7574 AN: 152112 Hom.: 415 Cov.: 32

Gnomad AFR AF: 0.0267

Gnomad AMI AF: 0.0758

Gnomad AMR AF: 0.151

Gnomad ASJ AF: 0.0971

Gnomad EAS AF: 0.168

Gnomad SAS AF: 0.121

Gnomad FIN AF: 0.0312

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.0260

Gnomad OTH AF: 0.0707

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

GnomAD4 genome AF: 0.0499 AC: 7595 AN: 152230 Hom.: 422 Cov.: 32 AF XY: 0.0545 AC XY: 4060 AN XY: 74454

Gnomad4 AFR AF: 0.0267

Gnomad4 AMR AF: 0.152

Gnomad4 ASJ AF: 0.0971

Gnomad4 EAS AF: 0.169

Gnomad4 SAS AF: 0.121

Gnomad4 FIN AF: 0.0312

Gnomad4 NFE AF: 0.0260

Gnomad4 OTH AF: 0.0710

Alfa AF: 0.0379 Hom.: 34

Bravo AF: 0.0598

Asia WGS AF: 0.149 AC: 516 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.60
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs79323383; hg19: chr8-121851425;