rs137852898
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP3_Moderate
The NM_024312.5(GNPTAB):c.3173C>T(p.Ser1058Leu) variant causes a missense change involving the alteration of a conserved nucleotide. 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. Synonymous variant affecting the same amino acid position (i.e. S1058S) has been classified as Likely benign.
Frequency
Consequence
NM_024312.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GNPTAB | NM_024312.5 | c.3173C>T | p.Ser1058Leu | missense_variant | 16/21 | ENST00000299314.12 | |
GNPTAB | XM_011538731.3 | c.3092C>T | p.Ser1031Leu | missense_variant | 16/21 | ||
GNPTAB | XM_006719593.4 | c.3173C>T | p.Ser1058Leu | missense_variant | 16/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNPTAB | ENST00000299314.12 | c.3173C>T | p.Ser1058Leu | missense_variant | 16/21 | 1 | NM_024312.5 | P1 | |
GNPTAB | ENST00000549194.1 | n.39C>T | non_coding_transcript_exon_variant | 1/3 | 3 | ||||
GNPTAB | ENST00000550718.1 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome ? Cov.: 32
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.