rs368803417
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001300862.2(MPND):c.370C>A(p.Pro124Thr) variant causes a missense change. 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. P124S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001300862.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MPND | NM_001300862.2 | c.370C>A | p.Pro124Thr | missense_variant | Exon 3 of 13 | ENST00000599840.6 | NP_001287791.1 | |
MPND | NM_032868.6 | c.370C>A | p.Pro124Thr | missense_variant | Exon 3 of 12 | NP_116257.2 | ||
MPND | NM_001159846.3 | c.370C>A | p.Pro124Thr | missense_variant | Exon 3 of 11 | NP_001153318.1 | ||
MPND | XM_006722926.3 | c.370C>A | p.Pro124Thr | missense_variant | Exon 3 of 13 | XP_006722989.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at