chr1-32668257-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005610.3(RBBP4):c.343A>T(p.Ile115Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005610.3 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 |
---|---|---|---|---|---|---|---|---|
RBBP4 | NM_005610.3 | c.343A>T | p.Ile115Phe | missense_variant | Exon 4 of 12 | ENST00000373493.10 | NP_005601.1 | |
RBBP4 | NM_001135255.2 | c.340A>T | p.Ile114Phe | missense_variant | Exon 4 of 12 | NP_001128727.1 | ||
RBBP4 | NM_001135256.2 | c.238A>T | p.Ile80Phe | missense_variant | Exon 4 of 12 | NP_001128728.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.343A>T (p.I115F) alteration is located in exon 4 (coding exon 4) of the RBBP4 gene. This alteration results from a A to T substitution at nucleotide position 343, causing the isoleucine (I) at amino acid position 115 to be replaced by a phenylalanine (F). 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
Publications
No publications associated with this variant yet.