9-20354815-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004529.4(MLLT3):c.1496G>A(p.Cys499Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004529.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MLLT3 | NM_004529.4 | c.1496G>A | p.Cys499Tyr | missense_variant | Exon 9 of 11 | ENST00000380338.9 | NP_004520.2 | |
MLLT3 | NM_001286691.2 | c.1487G>A | p.Cys496Tyr | missense_variant | Exon 9 of 11 | NP_001273620.1 | ||
LOC124902129 | XR_007061433.1 | n.3784+2670C>T | intron_variant | Intron 2 of 2 | ||||
LOC124902129 | XR_007061434.1 | n.3879+2415C>T | intron_variant | Intron 3 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1496G>A (p.C499Y) alteration is located in exon 9 (coding exon 9) of the MLLT3 gene. This alteration results from a G to A substitution at nucleotide position 1496, causing the cysteine (C) at amino acid position 499 to be replaced by a tyrosine (Y). 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.