16-24562016-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006910.5(RBBP6):c.1144C>T(p.Pro382Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000237 in 1,613,470 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_006910.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 38AN: 152122Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000195 AC: 49AN: 251152Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135726
GnomAD4 exome AF: 0.000235 AC: 344AN: 1461230Hom.: 0 Cov.: 32 AF XY: 0.000250 AC XY: 182AN XY: 726988
GnomAD4 genome AF: 0.000250 AC: 38AN: 152240Hom.: 0 Cov.: 31 AF XY: 0.000215 AC XY: 16AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1144C>T (p.P382S) alteration is located in exon 10 (coding exon 10) of the RBBP6 gene. This alteration results from a C to T substitution at nucleotide position 1144, causing the proline (P) at amino acid position 382 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