chr1-10474995-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_004565.3(PEX14):āc.29C>Gā(p.Pro10Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000134 in 1,610,166 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 Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P10S) has been classified as Uncertain significance.
Frequency
Consequence
NM_004565.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PEX14 | NM_004565.3 | c.29C>G | p.Pro10Arg | missense_variant | 1/9 | ENST00000356607.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PEX14 | ENST00000356607.9 | c.29C>G | p.Pro10Arg | missense_variant | 1/9 | 1 | NM_004565.3 | P1 | |
PEX14 | ENST00000491661.2 | c.14C>G | p.Pro5Arg | missense_variant | 1/6 | 2 | |||
PEX14 | ENST00000472851.1 | n.293+2415C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000742 AC: 113AN: 152214Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000167 AC: 40AN: 239350Hom.: 0 AF XY: 0.000108 AC XY: 14AN XY: 130148
GnomAD4 exome AF: 0.0000700 AC: 102AN: 1457834Hom.: 0 Cov.: 30 AF XY: 0.0000648 AC XY: 47AN XY: 724824
GnomAD4 genome AF: 0.000742 AC: 113AN: 152332Hom.: 0 Cov.: 33 AF XY: 0.000671 AC XY: 50AN XY: 74490
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Aug 24, 2017 | - - |
Peroxisome biogenesis disorder, complementation group K Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 08, 2024 | - - |
PEX14-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 31, 2022 | 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). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at