rs150009231
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001543.5(NDST1):c.1360C>A(p.Arg454Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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. R454C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001543.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDST1 | NM_001543.5 | c.1360C>A | p.Arg454Ser | missense_variant | 6/15 | ENST00000261797.7 | |
NDST1 | NM_001301063.2 | c.1360C>A | p.Arg454Ser | missense_variant | 6/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDST1 | ENST00000261797.7 | c.1360C>A | p.Arg454Ser | missense_variant | 6/15 | 1 | NM_001543.5 | P1 | |
NDST1 | ENST00000523767.5 | c.1360C>A | p.Arg454Ser | missense_variant | 6/14 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 152206Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 152324Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74484
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.