19-7477237-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080662.4(PEX11G):āc.691C>Gā(p.Arg231Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (ā ).
Frequency
Consequence
NM_080662.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PEX11G | NM_080662.4 | c.691C>G | p.Arg231Gly | missense_variant | 5/5 | ENST00000221480.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PEX11G | ENST00000221480.6 | c.691C>G | p.Arg231Gly | missense_variant | 5/5 | 1 | NM_080662.4 | P1 | |
PEX11G | ENST00000593942.5 | c.481C>G | p.Arg161Gly | missense_variant | 7/7 | 5 | |||
PEX11G | ENST00000593547.1 | c.472C>G | p.Arg158Gly | missense_variant | 5/5 | 5 | |||
PEX11G | ENST00000599519.1 | n.493C>G | non_coding_transcript_exon_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1393004Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 689026
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 29, 2024 | The c.691C>G (p.R231G) alteration is located in exon 5 (coding exon 5) of the PEX11G gene. This alteration results from a C to G substitution at nucleotide position 691, causing the arginine (R) at amino acid position 231 to be replaced by a glycine (G). 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.