8-11482672-T-C

Variant names:

• chr8-11482672-T-C
• rs7812879

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 0.809 in 152,050 control chromosomes in the GnomAD database, including 49,923 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 0.81 (49923 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19

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 (AMR) allele frequency at 95% confidence interval = 0.848 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: 0.809 AC: 122861 AN: 151932 Hom.: 49874 Cov.: 30

Gnomad AFR AF: 0.785

Gnomad AMI AF: 0.675

Gnomad AMR AF: 0.860

Gnomad ASJ AF: 0.816

Gnomad EAS AF: 0.747

Gnomad SAS AF: 0.793

Gnomad FIN AF: 0.692

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.811

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

GnomAD4 genome AF: 0.809 AC: 122967 AN: 152050 Hom.: 49923 Cov.: 30 AF XY: 0.802 AC XY: 59580 AN XY: 74324

Gnomad4 AFR AF: 0.785

Gnomad4 AMR AF: 0.860

Gnomad4 ASJ AF: 0.816

Gnomad4 EAS AF: 0.748

Gnomad4 SAS AF: 0.793

Gnomad4 FIN AF: 0.692

Gnomad4 NFE AF: 0.837

Gnomad4 OTH AF: 0.814

Alfa AF: 0.830 Hom.: 27034

Bravo AF: 0.821

Asia WGS AF: 0.801 AC: 2787 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	0.17
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7812879; hg19: chr8-11340181;