chr8-31032733-C-T
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001323311.2(PURG):c.50G>A(p.Gly17Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,299,282 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001323311.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PURG | NM_001323311.2 | c.50G>A | p.Gly17Asp | missense_variant | Exon 2 of 2 | ENST00000523392.2 | NP_001310240.1 | |
PURG | NM_013357.2 | c.50G>A | p.Gly17Asp | missense_variant | Exon 1 of 1 | NP_037489.1 | ||
PURG | NM_001015508.3 | c.50G>A | p.Gly17Asp | missense_variant | Exon 1 of 2 | NP_001015508.1 | ||
PURG | NM_001323312.2 | c.50G>A | p.Gly17Asp | missense_variant | Exon 2 of 3 | NP_001310241.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PURG | ENST00000523392.2 | c.50G>A | p.Gly17Asp | missense_variant | Exon 2 of 2 | 3 | NM_001323311.2 | ENSP00000466881.2 | ||
PURG | ENST00000339382.3 | c.50G>A | p.Gly17Asp | missense_variant | Exon 1 of 2 | 1 | ENSP00000345168.2 | |||
PURG | ENST00000475541.2 | c.50G>A | p.Gly17Asp | missense_variant | Exon 1 of 1 | 6 | ENSP00000418721.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 151936Hom.: 0 Cov.: 32
GnomAD2 exomes AF: 0.0000211 AC: 2AN: 94662 AF XY: 0.0000206 show subpopulations
GnomAD4 exome AF: 0.00000616 AC: 8AN: 1299282Hom.: 0 Cov.: 32 AF XY: 0.00000635 AC XY: 4AN XY: 629986 show subpopulations
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151936Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74212
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.50G>A (p.G17D) alteration is located in exon 1 (coding exon 1) of the PURG gene. This alteration results from a G to A substitution at nucleotide position 50, causing the glycine (G) at amino acid position 17 to be replaced by an aspartic acid (D). 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