7-29566544-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_175887.3(PRR15):c.215C>G(p.Pro72Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000238 in 1,608,078 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_175887.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000690 AC: 16AN: 232034Hom.: 0 AF XY: 0.0000782 AC XY: 10AN XY: 127828
GnomAD4 exome AF: 0.000246 AC: 358AN: 1455890Hom.: 1 Cov.: 66 AF XY: 0.000235 AC XY: 170AN XY: 723906
GnomAD4 genome AF: 0.000164 AC: 25AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.215C>G (p.P72R) alteration is located in exon 2 (coding exon 1) of the PRR15 gene. This alteration results from a C to G substitution at nucleotide position 215, causing the proline (P) at amino acid position 72 to be replaced by an arginine (R). 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