6-57196511-C-A
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_016277.5(RAB23):c.337G>T(p.Asp113Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,746 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. D113N) has been classified as Uncertain significance.
Frequency
Consequence
NM_016277.5 missense
Scores
Clinical Significance
Conservation
Publications
- RAB23-related Carpenter syndromeInheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae), ClinGen, G2P
- Carpenter syndromeInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt | 
|---|---|---|---|---|---|---|---|---|
| RAB23 | NM_016277.5 | c.337G>T | p.Asp113Tyr | missense_variant | Exon 4 of 7 | ENST00000468148.6 | NP_057361.3 | 
Ensembl
Frequencies
GnomAD3 genomes  
GnomAD2 exomes  AF:  0.00000398  AC: 1AN: 251282 AF XY:  0.00   show subpopulations 
GnomAD4 exome  AF:  0.00000137  AC: 2AN: 1461746Hom.:  0  Cov.: 31 AF XY:  0.00  AC XY: 0AN XY: 727168 show subpopulations  ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5. 
GnomAD4 genome  
ClinVar
Not reported inComputational scores
Source: 
Splicing
 Find out detailed SpliceAI scores and Pangolin per-transcript scores at