9-107318823-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002874.5(RAD23B):c.625G>T(p.Ala209Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,613,396 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002874.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAD23B | NM_002874.5 | c.625G>T | p.Ala209Ser | missense_variant | Exon 6 of 10 | ENST00000358015.8 | NP_002865.1 | |
RAD23B | NM_001244713.1 | c.562G>T | p.Ala188Ser | missense_variant | Exon 6 of 10 | NP_001231642.1 | ||
RAD23B | NM_001244724.2 | c.409G>T | p.Ala137Ser | missense_variant | Exon 6 of 10 | NP_001231653.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAD23B | ENST00000358015.8 | c.625G>T | p.Ala209Ser | missense_variant | Exon 6 of 10 | 1 | NM_002874.5 | ENSP00000350708.3 | ||
RAD23B | ENST00000416373.6 | c.409G>T | p.Ala137Ser | missense_variant | Exon 6 of 10 | 1 | ENSP00000405623.2 | |||
RAD23B | ENST00000457811.1 | c.232G>T | p.Ala78Ser | missense_variant | Exon 3 of 4 | 3 | ENSP00000396975.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251380Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135856
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461294Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 726994
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152102Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.625G>T (p.A209S) alteration is located in exon 6 (coding exon 6) of the RAD23B gene. This alteration results from a G to T substitution at nucleotide position 625, causing the alanine (A) at amino acid position 209 to be replaced by a serine (S). 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