chr6-32188397-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002586.5(PBX2):c.403G>T(p.Gly135Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G135S) has been classified as Uncertain significance.
Frequency
Consequence
NM_002586.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PBX2 | NM_002586.5 | c.403G>T | p.Gly135Cys | missense_variant | Exon 3 of 9 | ENST00000375050.6 | NP_002577.2 | |
PBX2 | XM_047418839.1 | c.58G>T | p.Gly20Cys | missense_variant | Exon 2 of 8 | XP_047274795.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PBX2 | ENST00000375050.6 | c.403G>T | p.Gly135Cys | missense_variant | Exon 3 of 9 | 1 | NM_002586.5 | ENSP00000364190.3 | ||
PBX2 | ENST00000478678.5 | n.430G>T | non_coding_transcript_exon_variant | Exon 3 of 6 | 1 | |||||
PBX2 | ENST00000480254.1 | n.463G>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
PBX2 | ENST00000496171.1 | n.420G>T | non_coding_transcript_exon_variant | Exon 1 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at