1-231265356-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_014236.4(GNPAT):c.632G>C(p.Arg211Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,146 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R211C) has been classified as Likely pathogenic.
Frequency
Consequence
NM_014236.4 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 |
---|---|---|---|---|---|---|---|
GNPAT | NM_014236.4 | c.632G>C | p.Arg211Pro | missense_variant | 5/16 | ENST00000366647.9 | |
GNPAT | NM_001316350.2 | c.449G>C | p.Arg150Pro | missense_variant | 4/15 | ||
GNPAT | XM_005273313.5 | c.629G>C | p.Arg210Pro | missense_variant | 5/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNPAT | ENST00000366647.9 | c.632G>C | p.Arg211Pro | missense_variant | 5/16 | 1 | NM_014236.4 | P1 | |
GNPAT | ENST00000416000.1 | c.602G>C | p.Arg201Pro | missense_variant | 5/13 | 5 | |||
GNPAT | ENST00000436239.5 | c.449G>C | p.Arg150Pro | missense_variant | 4/6 | 3 | |||
GNPAT | ENST00000644483.1 | c.*318G>C | 3_prime_UTR_variant, NMD_transcript_variant | 6/17 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457146Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 725294
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at