1-145912184-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003846.3(PEX11B):c.757C>A(p.Pro253Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,457,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003846.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PEX11B | NM_003846.3 | c.757C>A | p.Pro253Thr | missense_variant | 4/4 | ENST00000369306.8 | NP_003837.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PEX11B | ENST00000369306.8 | c.757C>A | p.Pro253Thr | missense_variant | 4/4 | 1 | NM_003846.3 | ENSP00000358312.3 | ||
PEX11B | ENST00000537888.1 | c.715C>A | p.Pro239Thr | missense_variant | 4/4 | 2 | ENSP00000437510.1 | |||
PEX11B | ENST00000428634.1 | c.223C>A | p.Pro75Thr | missense_variant | 1/2 | 2 | ENSP00000414018.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1457584Hom.: 0 Cov.: 31 AF XY: 0.00000414 AC XY: 3AN XY: 724858
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2023 | The c.757C>A (p.P253T) alteration is located in exon 4 (coding exon 4) of the PEX11B gene. This alteration results from a C to A substitution at nucleotide position 757, causing the proline (P) at amino acid position 253 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.