X-45076737-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000611820.5(KDM6A):c.2899T>A(p.Leu967Met) 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L967S) has been classified as Likely benign.
Frequency
Consequence
ENST00000611820.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KDM6A | NM_001291415.2 | c.2899T>A | p.Leu967Met | missense_variant | 19/30 | ENST00000611820.5 | NP_001278344.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KDM6A | ENST00000611820.5 | c.2899T>A | p.Leu967Met | missense_variant | 19/30 | 1 | NM_001291415.2 | ENSP00000483595 | P4 |
Frequencies
GnomAD3 genomes Cov.: 20
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 20
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.