17-42570011-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_198204.2(MLX):c.506A>C(p.Gln169Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. Q169R) has been classified as Benign.
Frequency
Consequence
NM_198204.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MLX | NM_198204.2 | c.506A>C | p.Gln169Pro | missense_variant | 7/8 | ENST00000435881.7 | |
MLX | NM_170607.3 | c.668A>C | p.Gln223Pro | missense_variant | 7/8 | ||
MLX | NM_198205.2 | c.416A>C | p.Gln139Pro | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MLX | ENST00000435881.7 | c.506A>C | p.Gln169Pro | missense_variant | 7/8 | 1 | NM_198204.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 48
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at