rs398122799
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PVS1_StrongPM2PP5
The NM_004531.5(MOCS2):c.65del(p.Pro22HisfsTer2) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,764 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in Lovd as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. P22P) has been classified as Likely benign.
Frequency
Consequence
NM_004531.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MOCS2 | NM_004531.5 | c.65del | p.Pro22HisfsTer2 | frameshift_variant | 3/7 | ENST00000396954.8 | |
MOCS2 | NM_176806.4 | c.252del | p.Ile85LeufsTer167 | frameshift_variant | 3/7 | ENST00000450852.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MOCS2 | ENST00000396954.8 | c.65del | p.Pro22HisfsTer2 | frameshift_variant | 3/7 | 1 | NM_004531.5 | P1 | |
MOCS2 | ENST00000450852.8 | c.252del | p.Ile85LeufsTer167 | frameshift_variant | 3/7 | 1 | NM_176806.4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461764Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727192
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at