5-146237364-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_018989.2(RBM27):c.1211A>G(p.Asn404Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018989.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM27 | NM_018989.2 | c.1211A>G | p.Asn404Ser | missense_variant | 8/21 | ENST00000265271.7 | |
LOC127814297 | NM_001414499.1 | c.1211A>G | p.Asn404Ser | missense_variant | 8/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM27 | ENST00000265271.7 | c.1211A>G | p.Asn404Ser | missense_variant | 8/21 | 1 | NM_018989.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 249176Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135406
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461796Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727196
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 20, 2023 | The c.1211A>G (p.N404S) alteration is located in exon 8 (coding exon 8) of the RBM27 gene. This alteration results from a A to G substitution at nucleotide position 1211, causing the asparagine (N) at amino acid position 404 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