1-63629539-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM5PP3_Moderate
The NM_002633.3(PGM1):c.361G>T(p.Gly121Trp) 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G121R) has been classified as Pathogenic.
Frequency
Consequence
NM_002633.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PGM1 | NM_002633.3 | c.361G>T | p.Gly121Trp | missense_variant | 2/11 | ENST00000371084.8 | |
PGM1 | NM_001172818.1 | c.415G>T | p.Gly139Trp | missense_variant | 2/11 | ||
PGM1 | NM_001172819.2 | c.-231G>T | 5_prime_UTR_variant | 2/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PGM1 | ENST00000371084.8 | c.361G>T | p.Gly121Trp | missense_variant | 2/11 | 1 | NM_002633.3 | P1 | |
PGM1 | ENST00000650546.1 | c.361G>T | p.Gly121Trp | missense_variant | 2/12 | ||||
PGM1 | ENST00000371083.4 | c.415G>T | p.Gly139Trp | missense_variant | 2/11 | 2 | |||
PGM1 | ENST00000540265.5 | c.-231G>T | 5_prime_UTR_variant | 2/11 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248944Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134828
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at