GeneBe

7-5480548-A-ATTTTT

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_024963.6(FBXL18):​c.*1222_*1226dupAAAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.000074 ( 0 hom., cov: 0)

Consequence

FBXL18
NM_024963.6 3_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.827

Publications

0 publications found
Variant links:
Genes affected
FBXL18 (HGNC:21874): (F-box and leucine rich repeat protein 18) The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
FBXL18NM_024963.6 linkc.*1222_*1226dupAAAAA 3_prime_UTR_variant Exon 5 of 5 ENST00000382368.8 NP_079239.3 Q96ME1-4Q96D16
FBXL18NM_001367780.1 linkc.*1222_*1226dupAAAAA 3_prime_UTR_variant Exon 5 of 5 NP_001354709.1
FBXL18NM_001367781.1 linkc.*1222_*1226dupAAAAA 3_prime_UTR_variant Exon 5 of 5 NP_001354710.1
FBXL18NM_001363441.2 linkc.2000+10678_2000+10682dupAAAAA intron_variant Intron 4 of 4 NP_001350370.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
FBXL18ENST00000382368.8 linkc.*1222_*1226dupAAAAA 3_prime_UTR_variant Exon 5 of 5 5 NM_024963.6 ENSP00000371805.3 Q96ME1-4
FBXL18ENST00000415009.5 linkn.2000+10678_2000+10682dupAAAAA intron_variant Intron 4 of 6 2 ENSP00000415064.1 Q96ME1-2

Frequencies

GnomAD3 genomes
AF:
0.0000744
AC:
3
AN:
40342
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000142
Gnomad OTH
AF:
0.00
GnomAD4 exome
Cov.:
0
GnomAD4 genome
AF:
0.0000744
AC:
3
AN:
40332
Hom.:
0
Cov.:
0
AF XY:
0.0000555
AC XY:
1
AN XY:
18012
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
10418
American (AMR)
AF:
0.00
AC:
0
AN:
2680
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
1290
East Asian (EAS)
AF:
0.00
AC:
0
AN:
1846
South Asian (SAS)
AF:
0.00
AC:
0
AN:
1162
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
926
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
62
European-Non Finnish (NFE)
AF:
0.000142
AC:
3
AN:
21124
Other (OTH)
AF:
0.00
AC:
0
AN:
542
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.475
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.83

Splicing

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

Publications

Other links and lift over

dbSNP: rs1180980635; hg19: chr7-5520179; API