13-79354455-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001366735.2(RBM26):c.1970C>T(p.Ser657Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000942 in 1,591,734 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366735.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM26 | NM_001366735.2 | c.1970C>T | p.Ser657Phe | missense_variant | 13/22 | ENST00000438737.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM26 | ENST00000438737.3 | c.1970C>T | p.Ser657Phe | missense_variant | 13/22 | 5 | NM_001366735.2 | A1 | |
RBM26 | ENST00000438724.5 | c.1970C>T | p.Ser657Phe | missense_variant | 13/21 | 1 | A1 | ||
RBM26 | ENST00000267229.11 | c.1961C>T | p.Ser654Phe | missense_variant | 13/21 | 1 | P4 | ||
RBM26 | ENST00000622611.4 | c.1976C>T | p.Ser659Phe | missense_variant | 13/22 | 2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000202 AC: 5AN: 247642Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 133902
GnomAD4 exome AF: 0.00000764 AC: 11AN: 1439516Hom.: 0 Cov.: 30 AF XY: 0.00000699 AC XY: 5AN XY: 715194
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at