6-41587404-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001012426.2(FOXP4):c.764C>T(p.Thr255Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000566 in 1,589,240 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T255K) has been classified as Uncertain significance.
Frequency
Consequence
NM_001012426.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXP4 | NM_001012426.2 | c.764C>T | p.Thr255Met | missense_variant | 7/17 | ENST00000307972.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXP4 | ENST00000307972.10 | c.764C>T | p.Thr255Met | missense_variant | 7/17 | 1 | NM_001012426.2 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000890 AC: 2AN: 224616Hom.: 0 AF XY: 0.00000829 AC XY: 1AN XY: 120616
GnomAD4 exome AF: 0.00000557 AC: 8AN: 1437034Hom.: 0 Cov.: 34 AF XY: 0.00000842 AC XY: 6AN XY: 712648
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 24, 2023 | The c.764C>T (p.T255M) alteration is located in exon 7 (coding exon 6) of the FOXP4 gene. This alteration results from a C to T substitution at nucleotide position 764, causing the threonine (T) at amino acid position 255 to be replaced by a methionine (M). 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