rs411279

Variant names:

• chr8-89795929-A-C
• rs411279

Your query was ambiguous. Multiple possible variants found:

• chr8-89795929-A-C
• chr8-89795929-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 0.638 in 151,910 control chromosomes in the GnomAD database, including 32,839 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 0.64 (32839 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.229

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.877 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: 0.638 AC: 96778 AN: 151790 Hom.: 32785 Cov.: 31

Gnomad AFR AF: 0.884

Gnomad AMI AF: 0.432

Gnomad AMR AF: 0.522

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.531

Gnomad SAS AF: 0.437

Gnomad FIN AF: 0.621

Gnomad MID AF: 0.653

Gnomad NFE AF: 0.553

Gnomad OTH AF: 0.615

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

GnomAD4 genome AF: 0.638 AC: 96890 AN: 151910 Hom.: 32839 Cov.: 31 AF XY: 0.634 AC XY: 47071 AN XY: 74242

Gnomad4 AFR AF: 0.884

Gnomad4 AMR AF: 0.522

Gnomad4 ASJ AF: 0.424

Gnomad4 EAS AF: 0.530

Gnomad4 SAS AF: 0.437

Gnomad4 FIN AF: 0.621

Gnomad4 NFE AF: 0.553

Gnomad4 OTH AF: 0.613

Alfa AF: 0.560 Hom.: 11076

Bravo AF: 0.644

Asia WGS AF: 0.517 AC: 1794 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.9
DANN	Benign	0.87

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs411279; hg19: chr8-90808157;