9-113169728-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015258.2(FKBP15):c.2981T>G(p.Leu994Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,613,500 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015258.2 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 |
---|---|---|---|---|---|---|---|
FKBP15 | NM_015258.2 | c.2981T>G | p.Leu994Trp | missense_variant | 26/28 | ENST00000238256.8 | |
FKBP15 | XM_006717018.3 | c.2951T>G | p.Leu984Trp | missense_variant | 26/28 | ||
FKBP15 | XM_006717019.2 | c.2777T>G | p.Leu926Trp | missense_variant | 25/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FKBP15 | ENST00000238256.8 | c.2981T>G | p.Leu994Trp | missense_variant | 26/28 | 1 | NM_015258.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247874Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134510
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461242Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 726840
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 19, 2023 | The c.2981T>G (p.L994W) alteration is located in exon 26 (coding exon 26) of the FKBP15 gene. This alteration results from a T to G substitution at nucleotide position 2981, causing the leucine (L) at amino acid position 994 to be replaced by a tryptophan (W). 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