7-32957715-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007270.5(FKBP9):c.142C>A(p.Pro48Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007270.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FKBP9 | NM_007270.5 | c.142C>A | p.Pro48Thr | missense_variant | Exon 1 of 10 | ENST00000242209.9 | NP_009201.2 | |
FKBP9 | NM_001284341.2 | c.142C>A | p.Pro48Thr | missense_variant | Exon 1 of 11 | NP_001271270.1 | ||
FKBP9 | XM_011515115.4 | c.142C>A | p.Pro48Thr | missense_variant | Exon 1 of 7 | XP_011513417.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1379356Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 682274
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.142C>A (p.P48T) alteration is located in exon 1 (coding exon 1) of the FKBP9 gene. This alteration results from a C to A substitution at nucleotide position 142, causing the proline (P) at amino acid position 48 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.