15-60005862-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012182.3(FOXB1):c.899C>A(p.Thr300Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000262 in 1,600,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012182.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000376 AC: 8AN: 212884Hom.: 0 AF XY: 0.0000684 AC XY: 8AN XY: 116990
GnomAD4 exome AF: 0.0000249 AC: 36AN: 1447780Hom.: 0 Cov.: 34 AF XY: 0.0000389 AC XY: 28AN XY: 719550
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.899C>A (p.T300N) alteration is located in exon 2 (coding exon 1) of the FOXB1 gene. This alteration results from a C to A substitution at nucleotide position 899, causing the threonine (T) at amino acid position 300 to be replaced by an asparagine (N). 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