chr7-157540717-C-A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_002847.5(PTPRN2):c.3045G>T(p.Gln1015His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00955 in 1,561,220 control chromosomes in the GnomAD database, including 93 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q1015R) has been classified as Uncertain significance.
Frequency
Consequence
NM_002847.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00643 AC: 979AN: 152208Hom.: 7 Cov.: 33
GnomAD3 exomes AF: 0.00604 AC: 1041AN: 172386Hom.: 4 AF XY: 0.00657 AC XY: 601AN XY: 91526
GnomAD4 exome AF: 0.00989 AC: 13935AN: 1408894Hom.: 86 Cov.: 31 AF XY: 0.00977 AC XY: 6801AN XY: 696236
GnomAD4 genome AF: 0.00643 AC: 979AN: 152326Hom.: 7 Cov.: 33 AF XY: 0.00587 AC XY: 437AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:3
PTPRN2: BS1, BS2 -
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at