rs201670904
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001164465.3(GOLGA6L10):c.1154G>C(p.Arg385Pro) 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 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. R385Q) has been classified as Benign.
Frequency
Consequence
NM_001164465.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GOLGA6L10 | NM_001164465.3 | c.1154G>C | p.Arg385Pro | missense_variant | 6/9 | ENST00000610657.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GOLGA6L10 | ENST00000610657.2 | c.1154G>C | p.Arg385Pro | missense_variant | 6/9 | 2 | NM_001164465.3 | P2 | |
GOLGA6L10 | ENST00000621197.4 | c.905G>C | p.Arg302Pro | missense_variant | 7/10 | 5 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Cov.: 42
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at