14-92577475-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024832.5(RIN3):c.365C>T(p.Ser122Leu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000107 in 1,595,198 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024832.5 missense, splice_region
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 |
---|---|---|---|---|---|---|---|
RIN3 | NM_024832.5 | c.365C>T | p.Ser122Leu | missense_variant, splice_region_variant | 3/10 | ENST00000216487.12 | |
RIN3 | NM_001319987.2 | c.140C>T | p.Ser47Leu | missense_variant, splice_region_variant | 2/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIN3 | ENST00000216487.12 | c.365C>T | p.Ser122Leu | missense_variant, splice_region_variant | 3/10 | 1 | NM_024832.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250406Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135316
GnomAD4 exome AF: 0.0000104 AC: 15AN: 1443010Hom.: 0 Cov.: 26 AF XY: 0.0000125 AC XY: 9AN XY: 718930
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at