chr12-70524533-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001109754.4(PTPRB):c.6563G>A(p.Arg2188Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000347 in 1,613,174 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001109754.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152046Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 248824Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134984
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461012Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 726826
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152162Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.6563G>A (p.R2188Q) alteration is located in exon 33 (coding exon 33) of the PTPRB gene. This alteration results from a G to A substitution at nucleotide position 6563, causing the arginine (R) at amino acid position 2188 to be replaced by a glutamine (Q). 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