5-160092575-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001130864.2(PWWP2A):c.2075G>A(p.Arg692His) variant causes a missense change. The variant allele was found at a frequency of 0.0000657 in 1,551,488 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_001130864.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000130 AC: 2AN: 153974Hom.: 0 AF XY: 0.0000122 AC XY: 1AN XY: 81708
GnomAD4 exome AF: 0.0000686 AC: 96AN: 1399390Hom.: 0 Cov.: 32 AF XY: 0.0000652 AC XY: 45AN XY: 690202
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74296
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2075G>A (p.R692H) alteration is located in exon 2 (coding exon 2) of the PWWP2A gene. This alteration results from a G to A substitution at nucleotide position 2075, causing the arginine (R) at amino acid position 692 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