17-28523792-TTCTCTCTCTCTCTCTCTCTCTCTCTCTC-TTCTCTC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001369369.1(FOXN1):c.-14-145_-14-124delTCTCTCTCTCTCTCTCTCTCTC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000461 in 650,272 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000049 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000045 ( 0 hom. )
Consequence
FOXN1
NM_001369369.1 intron
NM_001369369.1 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.129
Genes affected
FOXN1 (HGNC:12765): (forkhead box N1) Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOXN1 | NM_001369369.1 | c.-14-145_-14-124delTCTCTCTCTCTCTCTCTCTCTC | intron_variant | Intron 1 of 8 | ENST00000579795.6 | NP_001356298.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FOXN1 | ENST00000579795.6 | c.-14-163_-14-142delTCTCTCTCTCTCTCTCTCTCTC | intron_variant | Intron 1 of 8 | 1 | NM_001369369.1 | ENSP00000464645.1 | |||
RSKR | ENST00000481916.6 | n.*1196-67705_*1196-67684delGAGAGAGAGAGAGAGAGAGAGA | intron_variant | Intron 7 of 7 | 1 | ENSP00000436369.2 | ||||
FOXN1 | ENST00000577936.2 | c.-9-168_-9-147delTCTCTCTCTCTCTCTCTCTCTC | intron_variant | Intron 1 of 8 | 4 | ENSP00000462159.2 |
Frequencies
GnomAD3 genomes AF: 0.0000485 AC: 7AN: 144256Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.0000455 AC: 23AN: 506016Hom.: 0 AF XY: 0.0000478 AC XY: 13AN XY: 272062
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GnomAD4 genome AF: 0.0000485 AC: 7AN: 144256Hom.: 0 Cov.: 0 AF XY: 0.0000286 AC XY: 2AN XY: 69838
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at