NM_001543.5:c.141delC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001543.5(NDST1):c.141delC(p.Ser48ArgfsTer131) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001543.5 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 |
---|---|---|---|---|---|---|---|---|
NDST1 | NM_001543.5 | c.141delC | p.Ser48ArgfsTer131 | frameshift_variant | Exon 2 of 15 | ENST00000261797.7 | NP_001534.1 | |
NDST1 | NM_001301063.2 | c.141delC | p.Ser48ArgfsTer131 | frameshift_variant | Exon 2 of 14 | NP_001287992.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDST1 | ENST00000261797.7 | c.141delC | p.Ser48ArgfsTer131 | frameshift_variant | Exon 2 of 15 | 1 | NM_001543.5 | ENSP00000261797.6 | ||
NDST1 | ENST00000523767.5 | c.141delC | p.Ser48ArgfsTer131 | frameshift_variant | Exon 2 of 14 | 2 | ENSP00000428604.1 | |||
NDST1 | ENST00000519157.1 | c.141delC | p.Ser48ArgfsTer111 | frameshift_variant | Exon 2 of 2 | 5 | ENSP00000427813.1 | |||
NDST1 | ENST00000522491.1 | c.141delC | p.Ser48ArgfsTer20 | frameshift_variant | Exon 2 of 2 | 2 | ENSP00000429966.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not an established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.