rs200685620
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_001164465.3(GOLGA6L10):āc.1081G>Cā(p.Glu361Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 10/15 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. E361K) has been classified as Benign.
Frequency
Consequence
NM_001164465.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GOLGA6L10 | NM_001164465.3 | c.1081G>C | p.Glu361Gln | missense_variant | 6/9 | ENST00000610657.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GOLGA6L10 | ENST00000610657.2 | c.1081G>C | p.Glu361Gln | missense_variant | 6/9 | 2 | NM_001164465.3 | P2 | |
GOLGA6L10 | ENST00000621197.4 | c.832G>C | p.Glu278Gln | missense_variant | 7/10 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 151850Hom.: 0 Cov.: 34 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.14e-7 AC: 1AN: 1399714Hom.: 0 Cov.: 40 AF XY: 0.00 AC XY: 0AN XY: 692300
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151952Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74252
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at