8-31032674-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001323311.2(PURG):āc.109T>Cā(p.Ser37Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000146 in 1,374,494 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001323311.2 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PURG | NM_001323311.2 | c.109T>C | p.Ser37Pro | missense_variant | 2/2 | ENST00000523392.2 | NP_001310240.1 | |
PURG | NM_013357.2 | c.109T>C | p.Ser37Pro | missense_variant | 1/1 | NP_037489.1 | ||
PURG | NM_001015508.3 | c.109T>C | p.Ser37Pro | missense_variant | 1/2 | NP_001015508.1 | ||
PURG | NM_001323312.2 | c.109T>C | p.Ser37Pro | missense_variant | 2/3 | NP_001310241.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PURG | ENST00000523392.2 | c.109T>C | p.Ser37Pro | missense_variant | 2/2 | 3 | NM_001323311.2 | ENSP00000466881.2 | ||
PURG | ENST00000339382.3 | c.109T>C | p.Ser37Pro | missense_variant | 1/2 | 1 | ENSP00000345168.2 | |||
PURG | ENST00000475541.2 | c.109T>C | p.Ser37Pro | missense_variant | 1/1 | 6 | ENSP00000418721.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1374494Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 677892
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.109T>C (p.S37P) alteration is located in exon 1 (coding exon 1) of the PURG gene. This alteration results from a T to C substitution at nucleotide position 109, causing the serine (S) at amino acid position 37 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.