10-97865671-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001010917.3(GOLGA7B):c.475G>A(p.Gly159Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000684 in 1,607,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010917.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GOLGA7B | NM_001010917.3 | c.475G>A | p.Gly159Ser | missense_variant | Exon 5 of 5 | ENST00000370602.6 | NP_001010917.1 | |
CRTAC1 | NM_018058.7 | c.1863C>T | p.Thr621Thr | synonymous_variant | Exon 15 of 15 | ENST00000370597.8 | NP_060528.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GOLGA7B | ENST00000370602.6 | c.475G>A | p.Gly159Ser | missense_variant | Exon 5 of 5 | 1 | NM_001010917.3 | ENSP00000359634.1 | ||
CRTAC1 | ENST00000370597.8 | c.1863C>T | p.Thr621Thr | synonymous_variant | Exon 15 of 15 | 1 | NM_018058.7 | ENSP00000359629.3 | ||
CRTAC1 | ENST00000413387.5 | c.1508C>T | p.Pro503Leu | missense_variant | Exon 12 of 12 | 2 | ENSP00000408445.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000130 AC: 3AN: 230952Hom.: 0 AF XY: 0.0000158 AC XY: 2AN XY: 126300
GnomAD4 exome AF: 0.00000687 AC: 10AN: 1455234Hom.: 0 Cov.: 32 AF XY: 0.00000691 AC XY: 5AN XY: 723446
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.475G>A (p.G159S) alteration is located in exon 1 (coding exon 1) of the GOLGA7B gene. This alteration results from a G to A substitution at nucleotide position 475, causing the glycine (G) at amino acid position 159 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at