NM_002847.5:c.2875G>C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002847.5(PTPRN2):c.2875G>C(p.Asp959His) variant causes a missense change. The variant allele was found at a frequency of 0.00000254 in 1,577,208 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002847.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000211 AC: 3AN: 1424962Hom.: 0 Cov.: 33 AF XY: 0.00000141 AC XY: 1AN XY: 710894
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2875G>C (p.D959H) alteration is located in exon 21 (coding exon 21) of the PTPRN2 gene. This alteration results from a G to C substitution at nucleotide position 2875, causing the aspartic acid (D) at amino acid position 959 to be replaced by a histidine (H). 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