22-21387144-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001128635.2(RIMBP3B):c.3286C>T(p.Arg1096Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001128635.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 exomes AF: 0.0000565 AC: 6AN: 106260Hom.: 2 AF XY: 0.0000344 AC XY: 2AN XY: 58178
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000693 AC: 40AN: 577554Hom.: 15 Cov.: 4 AF XY: 0.0000576 AC XY: 17AN XY: 294940
GnomAD4 genome Cov.: 0
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3286C>T (p.R1096C) alteration is located in exon 1 (coding exon 1) of the RIMBP3B gene. This alteration results from a C to T substitution at nucleotide position 3286, causing the arginine (R) at amino acid position 1096 to be replaced by a cysteine (C). 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