X-16852835-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002893.4(RBBP7):c.799T>G(p.Leu267Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002893.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBBP7 | NM_002893.4 | c.799T>G | p.Leu267Val | missense_variant | 7/12 | ENST00000380087.7 | |
RBBP7 | NM_001198719.2 | c.931T>G | p.Leu311Val | missense_variant | 7/12 | ||
RBBP7 | XM_047442291.1 | c.931T>G | p.Leu311Val | missense_variant | 7/12 | ||
RBBP7 | XM_047442292.1 | c.799T>G | p.Leu267Val | missense_variant | 7/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBBP7 | ENST00000380087.7 | c.799T>G | p.Leu267Val | missense_variant | 7/12 | 1 | NM_002893.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.