NM_002894.3:c.2630G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002894.3(RBBP8):c.2630G>T(p.Arg877Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,410 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R877H) has been classified as Uncertain significance.
Frequency
Consequence
NM_002894.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBBP8 | NM_002894.3 | c.2630G>T | p.Arg877Leu | missense_variant | Exon 19 of 19 | ENST00000327155.10 | NP_002885.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461410Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727024
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at