rs879255280
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The NM_005631.5(SMO):c.1234C>G(p.Leu412Val) 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. L412F) has been classified as Pathogenic.
Frequency
Consequence
NM_005631.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMO | NM_005631.5 | c.1234C>G | p.Leu412Val | missense_variant | 6/12 | ENST00000249373.8 | |
SMO | XM_047420759.1 | c.844C>G | p.Leu282Val | missense_variant | 7/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMO | ENST00000249373.8 | c.1234C>G | p.Leu412Val | missense_variant | 6/12 | 1 | NM_005631.5 | P1 | |
SMO | ENST00000495998.1 | n.179C>G | non_coding_transcript_exon_variant | 2/3 | 3 | ||||
SMO | ENST00000462420.2 | c.316C>G | p.Leu106Val | missense_variant, NMD_transcript_variant | 2/5 | 4 | |||
SMO | ENST00000655644.1 | c.*1098C>G | 3_prime_UTR_variant, NMD_transcript_variant | 7/12 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 42
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.