rs1040461
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_016277.5(RAB23):c.619G>A(p.Gly207Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0867 in 1,613,576 control chromosomes in the GnomAD database, including 7,009 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_016277.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAB23 | NM_016277.5 | c.619G>A | p.Gly207Ser | missense_variant | Exon 7 of 7 | ENST00000468148.6 | NP_057361.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.115 AC: 17523AN: 152020Hom.: 1217 Cov.: 32
GnomAD3 exomes AF: 0.0983 AC: 24708AN: 251284Hom.: 1455 AF XY: 0.0948 AC XY: 12873AN XY: 135812
GnomAD4 exome AF: 0.0837 AC: 122294AN: 1461438Hom.: 5789 Cov.: 31 AF XY: 0.0829 AC XY: 60244AN XY: 727036
GnomAD4 genome AF: 0.115 AC: 17558AN: 152138Hom.: 1220 Cov.: 32 AF XY: 0.116 AC XY: 8649AN XY: 74368
ClinVar
Submissions by phenotype
Carpenter syndrome Benign:2
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not provided Benign:2
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This variant is associated with the following publications: (PMID: 29416296) -
RAB23-related Carpenter syndrome Benign:2
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at