rs397515553
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The NM_004595.5(SMS):c.983A>C(p.Tyr328Ser) 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. Y328C) has been classified as Pathogenic.
Frequency
Consequence
NM_004595.5 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 |
---|---|---|---|---|---|---|---|
SMS | NM_004595.5 | c.983A>C | p.Tyr328Ser | missense_variant | 10/11 | ENST00000404933.7 | |
SMS | NM_001258423.2 | c.824A>C | p.Tyr275Ser | missense_variant | 8/9 | ||
SMS | XM_005274582.3 | c.881A>C | p.Tyr294Ser | missense_variant | 10/11 | ||
SMS | XM_011545568.3 | c.881A>C | p.Tyr294Ser | missense_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMS | ENST00000404933.7 | c.983A>C | p.Tyr328Ser | missense_variant | 10/11 | 1 | NM_004595.5 | P1 | |
SMS | ENST00000379404.5 | c.824A>C | p.Tyr275Ser | missense_variant | 8/9 | 3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at