chr8-41497540-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001002296.2(GOLGA7):c.143G>A(p.Arg48Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000171 in 1,576,342 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001002296.2 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 |
---|---|---|---|---|---|---|---|
GOLGA7 | NM_001002296.2 | c.143G>A | p.Arg48Gln | missense_variant | 2/5 | ENST00000357743.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GOLGA7 | ENST00000357743.9 | c.143G>A | p.Arg48Gln | missense_variant | 2/5 | 1 | NM_001002296.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 151946Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247304Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133702
GnomAD4 exome AF: 0.0000126 AC: 18AN: 1424396Hom.: 0 Cov.: 24 AF XY: 0.0000141 AC XY: 10AN XY: 708274
GnomAD4 genome ? AF: 0.0000592 AC: 9AN: 151946Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74222
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 04, 2022 | The c.143G>A (p.R48Q) alteration is located in exon 2 (coding exon 2) of the GOLGA7 gene. This alteration results from a G to A substitution at nucleotide position 143, causing the arginine (R) at amino acid position 48 to be replaced by a glutamine (Q). 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