chr15-23443797-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001304388.2(GOLGA6L2):c.571T>A(p.Trp191Arg) 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. 14/19 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001304388.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GOLGA6L2 | NM_001304388.2 | c.571T>A | p.Trp191Arg | missense_variant | 5/8 | ENST00000567107.6 | |
GOLGA6L2 | XM_047432396.1 | c.412T>A | p.Trp138Arg | missense_variant | 3/6 | ||
GOLGA6L2 | XM_047432397.1 | c.571T>A | p.Trp191Arg | missense_variant | 5/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GOLGA6L2 | ENST00000567107.6 | c.571T>A | p.Trp191Arg | missense_variant | 5/8 | 5 | NM_001304388.2 | P1 | |
GOLGA6L2 | ENST00000566571.5 | c.541T>A | p.Trp181Arg | missense_variant, NMD_transcript_variant | 4/7 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1386514Hom.: 0 Cov.: 44 AF XY: 0.00 AC XY: 0AN XY: 684400
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at