2-48359081-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_002158.4(FOXN2):c.572C>T(p.Pro191Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,612,498 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002158.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151508Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251028Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135654
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460990Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 726828
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151508Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74008
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.572C>T (p.P191L) alteration is located in exon 4 (coding exon 2) of the FOXN2 gene. This alteration results from a C to T substitution at nucleotide position 572, causing the proline (P) at amino acid position 191 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at