chr15-51341779-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 6P and 2B. PM1PM2PM5BP4_Moderate
The NM_181789.4(GLDN):c.95C>T(p.Ala32Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000334 in 1,498,146 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign 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. A32E) has been classified as Likely pathogenic.
Frequency
Consequence
NM_181789.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GLDN | NM_181789.4 | c.95C>T | p.Ala32Val | missense_variant | 1/10 | ENST00000335449.11 | |
GLDN | XM_017022121.2 | c.95C>T | p.Ala32Val | missense_variant | 1/9 | ||
GLDN | XM_017022125.1 | c.95C>T | p.Ala32Val | missense_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLDN | ENST00000335449.11 | c.95C>T | p.Ala32Val | missense_variant | 1/10 | 2 | NM_181789.4 | P1 | |
GLDN | ENST00000560215.5 | upstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000149 AC: 2AN: 1346000Hom.: 0 Cov.: 30 AF XY: 0.00000151 AC XY: 1AN XY: 663894
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at