rs1367687550
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014484.5(MOCS3):c.71T>A(p.Leu24Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. L24P) has been classified as Uncertain significance.
Frequency
Consequence
NM_014484.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MOCS3 | ENST00000244051.3 | c.71T>A | p.Leu24Gln | missense_variant | Exon 1 of 1 | 6 | NM_014484.5 | ENSP00000244051.1 | ||
DPM1 | ENST00000683466.1 | c.-327A>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 8 | ENSP00000507404.1 | |||||
DPM1 | ENST00000683466.1 | c.-327A>T | 5_prime_UTR_variant | Exon 1 of 8 | ENSP00000507404.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at