2-236167521-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001485.4(GBX2):c.451G>C(p.Gly151Arg) 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. G151C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001485.4 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 |
---|---|---|---|---|---|---|---|---|
GBX2 | NM_001485.4 | c.451G>C | p.Gly151Arg | missense_variant | Exon 1 of 2 | ENST00000306318.5 | NP_001476.2 | |
GBX2 | NM_001301687.2 | c.451G>C | p.Gly151Arg | missense_variant | Exon 1 of 3 | NP_001288616.1 | ||
GBX2 | XM_047443907.1 | c.451G>C | p.Gly151Arg | missense_variant | Exon 1 of 4 | XP_047299863.1 | ||
GBX2-AS1 | NR_186035.1 | n.80C>G | non_coding_transcript_exon_variant | Exon 1 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at