chr20-17620366-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001365613.2(RRBP1):c.3512G>A(p.Arg1171Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000378 in 1,613,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1171P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001365613.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RRBP1 | NM_001365613.2 | c.3512G>A | p.Arg1171Gln | missense_variant | 18/25 | ENST00000377813.6 | |
RRBP1 | NM_001042576.2 | c.2213G>A | p.Arg738Gln | missense_variant | 19/26 | ||
RRBP1 | NM_004587.3 | c.2213G>A | p.Arg738Gln | missense_variant | 18/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RRBP1 | ENST00000377813.6 | c.3512G>A | p.Arg1171Gln | missense_variant | 18/25 | 1 | NM_001365613.2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251418Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135882
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461378Hom.: 0 Cov.: 31 AF XY: 0.0000358 AC XY: 26AN XY: 727022
GnomAD4 genome ? AF: 0.0000920 AC: 14AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74398
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 16, 2023 | The c.2213G>A (p.R738Q) alteration is located in exon 19 (coding exon 17) of the RRBP1 gene. This alteration results from a G to A substitution at nucleotide position 2213, causing the arginine (R) at amino acid position 738 to be replaced by a glutamine (Q). 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