7-157571467-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002847.5(PTPRN2):c.2810G>A(p.Arg937His) variant causes a missense change. The variant allele was found at a frequency of 0.0000224 in 1,610,544 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152120Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000521 AC: 13AN: 249410Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134774
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1458306Hom.: 0 Cov.: 29 AF XY: 0.0000248 AC XY: 18AN XY: 725514
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74424
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2810G>A (p.R937H) alteration is located in exon 20 (coding exon 20) of the PTPRN2 gene. This alteration results from a G to A substitution at nucleotide position 2810, causing the arginine (R) at amino acid position 937 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