3-62078214-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002841.4(PTPRG):c.571A>G(p.Ile191Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000177 in 1,610,796 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002841.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PTPRG | NM_002841.4 | c.571A>G | p.Ile191Val | missense_variant | 5/30 | ENST00000474889.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PTPRG | ENST00000474889.6 | c.571A>G | p.Ile191Val | missense_variant | 5/30 | 1 | NM_002841.4 | A1 | |
PTPRG | ENST00000295874.14 | c.571A>G | p.Ile191Val | missense_variant | 5/29 | 1 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000131 AC: 20AN: 152120Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000140 AC: 35AN: 249138Hom.: 0 AF XY: 0.000119 AC XY: 16AN XY: 134674
GnomAD4 exome AF: 0.000182 AC: 265AN: 1458558Hom.: 0 Cov.: 30 AF XY: 0.000164 AC XY: 119AN XY: 725598
GnomAD4 genome ? AF: 0.000131 AC: 20AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 11, 2023 | The c.571A>G (p.I191V) alteration is located in exon 5 (coding exon 5) of the PTPRG gene. This alteration results from a A to G substitution at nucleotide position 571, causing the isoleucine (I) at amino acid position 191 to be replaced by a valine (V). 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