8-55690279-A-G

Variant names:

• chr8-55690279-A-G
• rs7011147

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 0.749 in 151,958 control chromosomes in the GnomAD database, including 43,603 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 0.75 (43603 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.09
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.909 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: 0.749 AC: 113711 AN: 151840 Hom.: 43540 Cov.: 31

Gnomad AFR AF: 0.916

Gnomad AMI AF: 0.691

Gnomad AMR AF: 0.763

Gnomad ASJ AF: 0.730

Gnomad EAS AF: 0.838

Gnomad SAS AF: 0.695

Gnomad FIN AF: 0.648

Gnomad MID AF: 0.763

Gnomad NFE AF: 0.658

Gnomad OTH AF: 0.742

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

GnomAD4 genome AF: 0.749 AC: 113834 AN: 151958 Hom.: 43603 Cov.: 31 AF XY: 0.749 AC XY: 55638 AN XY: 74270

African (AFR) AF: 0.916 AC: 37972 AN: 41434

American (AMR) AF: 0.764 AC: 11675 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.730 AC: 2533 AN: 3468

East Asian (EAS) AF: 0.839 AC: 4339 AN: 5174

South Asian (SAS) AF: 0.696 AC: 3353 AN: 4818

European-Finnish (FIN) AF: 0.648 AC: 6827 AN: 10540

Middle Eastern (MID) AF: 0.762 AC: 224 AN: 294

European-Non Finnish (NFE) AF: 0.658 AC: 44721 AN: 67932

Other (OTH) AF: 0.743 AC: 1564 AN: 2106

Alfa AF: 0.688 Hom.: 60017

Bravo AF: 0.768

Asia WGS AF: 0.755 AC: 2629 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.68
DANN	Benign	0.14
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs7011147; hg19: chr8-56602838;