chr1-63593544-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_002633.3(PGM1):c.56C>G(p.Thr19Arg) 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. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T19A) has been classified as Likely pathogenic.
Frequency
Consequence
NM_002633.3 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 |
---|---|---|---|---|---|---|---|
PGM1 | NM_002633.3 | c.56C>G | p.Thr19Arg | missense_variant | 1/11 | ENST00000371084.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PGM1 | ENST00000371084.8 | c.56C>G | p.Thr19Arg | missense_variant | 1/11 | 1 | NM_002633.3 | P1 | |
PGM1 | ENST00000650546.1 | c.56C>G | p.Thr19Arg | missense_variant | 1/12 | ||||
ITGB3BP | ENST00000478138.1 | n.178G>C | non_coding_transcript_exon_variant | 1/5 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 17, 2023 | The c.56C>G (p.T19R) alteration is located in exon 1 (coding exon 1) of the PGM1 gene. This alteration results from a C to G substitution at nucleotide position 56, causing the threonine (T) at amino acid position 19 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.