8-40044278-A-G

Variant names:

• chr8-40044278-A-G
• rs2929115

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 0.91 in 152,272 control chromosomes in the GnomAD database, including 63,180 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 0.91 (63180 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.611
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.971 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.910 AC: 138458 AN: 152154 Hom.: 63134 Cov.: 33

Gnomad AFR AF: 0.920

Gnomad AMI AF: 0.944

Gnomad AMR AF: 0.830

Gnomad ASJ AF: 0.943

Gnomad EAS AF: 0.994

Gnomad SAS AF: 0.980

Gnomad FIN AF: 0.902

Gnomad MID AF: 0.972

Gnomad NFE AF: 0.909

Gnomad OTH AF: 0.912

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

GnomAD4 genome AF: 0.910 AC: 138558 AN: 152272 Hom.: 63180 Cov.: 33 AF XY: 0.911 AC XY: 67807 AN XY: 74436

African (AFR) AF: 0.920 AC: 38215 AN: 41548

American (AMR) AF: 0.829 AC: 12680 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.943 AC: 3273 AN: 3472

East Asian (EAS) AF: 0.994 AC: 5147 AN: 5180

South Asian (SAS) AF: 0.980 AC: 4732 AN: 4830

European-Finnish (FIN) AF: 0.902 AC: 9564 AN: 10598

Middle Eastern (MID) AF: 0.973 AC: 286 AN: 294

European-Non Finnish (NFE) AF: 0.909 AC: 61871 AN: 68034

Other (OTH) AF: 0.912 AC: 1929 AN: 2114

Alfa AF: 0.905 Hom.: 20474

Bravo AF: 0.899

Asia WGS AF: 0.979 AC: 3405 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.1
DANN	Benign	0.36
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs2929115; hg19: chr8-39901797;