6-35575888-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004117.4(FKBP5):c.1321A>G(p.Lys441Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004117.4 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 |
---|---|---|---|---|---|---|---|
FKBP5 | NM_004117.4 | c.1321A>G | p.Lys441Glu | missense_variant | 11/11 | ENST00000357266.9 | |
LOC101929309 | XR_242006.4 | n.182-17142T>C | intron_variant, non_coding_transcript_variant | ||||
FKBP5 | NM_001145775.3 | c.1321A>G | p.Lys441Glu | missense_variant | 12/12 | ||
FKBP5 | NM_001145776.2 | c.1321A>G | p.Lys441Glu | missense_variant | 11/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FKBP5 | ENST00000357266.9 | c.1321A>G | p.Lys441Glu | missense_variant | 11/11 | 1 | NM_004117.4 | P1 | |
FKBP5 | ENST00000536438.5 | c.1321A>G | p.Lys441Glu | missense_variant | 12/12 | 1 | P1 | ||
FKBP5 | ENST00000539068.5 | c.1321A>G | p.Lys441Glu | missense_variant | 11/11 | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461844Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727232
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2022 | The c.1321A>G (p.K441E) alteration is located in exon 12 (coding exon 10) of the FKBP5 gene. This alteration results from a A to G substitution at nucleotide position 1321, causing the lysine (K) at amino acid position 441 to be replaced by a glutamic acid (E). 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