11-124637048-CACTGCTTATAT-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_170601.5(SIAE):c.1464_1474delATATAAGCAGT(p.Tyr489SerfsTer7) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. E488E) has been classified as Likely benign.
Frequency
Consequence
NM_170601.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIAE | NM_170601.5 | c.1464_1474delATATAAGCAGT | p.Tyr489SerfsTer7 | frameshift_variant | Exon 10 of 10 | ENST00000263593.8 | NP_733746.1 | |
SIAE | NM_001199922.2 | c.1359_1369delATATAAGCAGT | p.Tyr454SerfsTer7 | frameshift_variant | Exon 12 of 12 | NP_001186851.1 | ||
SIAE | XM_047427132.1 | c.891_901delATATAAGCAGT | p.Tyr298SerfsTer7 | frameshift_variant | Exon 7 of 7 | XP_047283088.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SIAE | ENST00000263593.8 | c.1464_1474delATATAAGCAGT | p.Tyr489SerfsTer7 | frameshift_variant | Exon 10 of 10 | 1 | NM_170601.5 | ENSP00000263593.3 | ||
SIAE | ENST00000618733.4 | c.1359_1369delATATAAGCAGT | p.Tyr454SerfsTer7 | frameshift_variant | Exon 12 of 12 | 1 | ENSP00000478211.1 | |||
SIAE | ENST00000545756.5 | c.1359_1369delATATAAGCAGT | p.Tyr454SerfsTer7 | frameshift_variant | Exon 11 of 11 | 5 | ENSP00000437877.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change creates a premature translational stop signal (p.Tyr489Serfs*7) in the SIAE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acid(s) of the SIAE protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SIAE-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.