8-56316157-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_138969.4(SDR16C5):c.191G>A(p.Gly64Glu) variant causes a missense change involving the alteration of a non-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. G64A) has been classified as Uncertain significance.
Frequency
Consequence
NM_138969.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SDR16C5 | NM_138969.4 | c.191G>A | p.Gly64Glu | missense_variant | Exon 2 of 7 | ENST00000303749.8 | NP_620419.2 | |
SDR16C5 | NM_001318049.2 | c.191G>A | p.Gly64Glu | missense_variant | Exon 2 of 8 | NP_001304978.1 | ||
SDR16C5 | NM_001318050.2 | c.191G>A | p.Gly64Glu | missense_variant | Exon 2 of 6 | NP_001304979.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SDR16C5 | ENST00000303749.8 | c.191G>A | p.Gly64Glu | missense_variant | Exon 2 of 7 | 1 | NM_138969.4 | ENSP00000307607.3 | ||
SDR16C5 | ENST00000396721.6 | c.191G>A | p.Gly64Glu | missense_variant | Exon 2 of 6 | 1 | ENSP00000379947.2 | |||
SDR16C5 | ENST00000522671.1 | c.191G>A | p.Gly64Glu | missense_variant | Exon 2 of 8 | 2 | ENSP00000431010.1 |
Frequencies
GnomAD3 genomes Cov.: 32
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