19-40396774-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6_Very_StrongBP7
The NM_181882.3(PRX):c.1578G>A(p.Ser526Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_181882.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRX | NM_181882.3 | c.1578G>A | p.Ser526Ser | synonymous_variant | Exon 7 of 7 | ENST00000324001.8 | NP_870998.2 | |
PRX | NM_001411127.1 | c.1863G>A | p.Ser621Ser | synonymous_variant | Exon 7 of 7 | NP_001398056.1 | ||
PRX | XM_017027047.2 | c.1476G>A | p.Ser492Ser | synonymous_variant | Exon 4 of 4 | XP_016882536.1 | ||
PRX | NM_020956.2 | c.*1783G>A | 3_prime_UTR_variant | Exon 6 of 6 | NP_066007.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 20AN: 102214Hom.: 0 Cov.: 30 FAILED QC
GnomAD3 exomes AF: 0.0000228 AC: 5AN: 219134Hom.: 0 AF XY: 0.00000834 AC XY: 1AN XY: 119900
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000361 AC: 50AN: 1384852Hom.: 0 Cov.: 37 AF XY: 0.0000363 AC XY: 25AN XY: 687920
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000196 AC: 20AN: 102264Hom.: 0 Cov.: 30 AF XY: 0.000141 AC XY: 7AN XY: 49554
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease Benign:1
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PRX-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
not provided Benign:1
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Charcot-Marie-Tooth disease type 4 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at