rs3742717
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024832.5(RIN3):c.1274C>G(p.Thr425Arg) 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. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T425I) has been classified as Likely benign.
Frequency
Consequence
NM_024832.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIN3 | NM_024832.5 | c.1274C>G | p.Thr425Arg | missense_variant | 6/10 | ENST00000216487.12 | |
RIN3 | NM_001319987.2 | c.1049C>G | p.Thr350Arg | missense_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIN3 | ENST00000216487.12 | c.1274C>G | p.Thr425Arg | missense_variant | 6/10 | 1 | NM_024832.5 | P2 | |
RIN3 | ENST00000555589.5 | c.*721C>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/9 | 1 | ||||
RIN3 | ENST00000620541.4 | c.1058C>G | p.Thr353Arg | missense_variant | 7/11 | 5 | A2 | ||
RIN3 | ENST00000418924.6 | n.1173C>G | non_coding_transcript_exon_variant | 5/9 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Cov.: 49
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at