rs4601326

chr8-130479982-A-G

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 0.762 in 152,020 control chromosomes in the GnomAD database, including 44,313 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 0.76 (44313 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.206

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.823 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.762 AC: 115754 AN: 151902 Hom.: 44261 Cov.: 30

Gnomad AFR AF: 0.830

Gnomad AMI AF: 0.841

Gnomad AMR AF: 0.713

Gnomad ASJ AF: 0.730

Gnomad EAS AF: 0.650

Gnomad SAS AF: 0.716

Gnomad FIN AF: 0.747

Gnomad MID AF: 0.722

Gnomad NFE AF: 0.748

Gnomad OTH AF: 0.736

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

GnomAD4 genome AF: 0.762 AC: 115872 AN: 152020 Hom.: 44313 Cov.: 30 AF XY: 0.758 AC XY: 56344 AN XY: 74290

Gnomad4 AFR AF: 0.830

Gnomad4 AMR AF: 0.713

Gnomad4 ASJ AF: 0.730

Gnomad4 EAS AF: 0.650

Gnomad4 SAS AF: 0.717

Gnomad4 FIN AF: 0.747

Gnomad4 NFE AF: 0.748

Gnomad4 OTH AF: 0.738

Alfa AF: 0.748 Hom.: 58071

Bravo AF: 0.765

Asia WGS AF: 0.708 AC: 2465 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	3.8
Dann	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4601326; hg19: chr8-131492228;