rs201486809
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018993.4(RIN2):c.1045C>A(p.Pro349Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,232 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P349S) has been classified as Likely benign.
Frequency
Consequence
NM_018993.4 missense
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 |
---|---|---|---|---|---|---|---|
RIN2 | NM_018993.4 | c.1045C>A | p.Pro349Thr | missense_variant | 9/13 | ENST00000255006.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIN2 | ENST00000255006.12 | c.1045C>A | p.Pro349Thr | missense_variant | 9/13 | 2 | NM_018993.4 | P1 | |
RIN2 | ENST00000440354.2 | c.463+14259C>A | intron_variant | 1 | |||||
RIN2 | ENST00000484638.1 | n.889C>A | non_coding_transcript_exon_variant | 5/9 | 1 | ||||
RIN2 | ENST00000648440.1 | c.1045C>A | p.Pro349Thr | missense_variant | 8/12 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246564Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134254
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461232Hom.: 0 Cov.: 37 AF XY: 0.00 AC XY: 0AN XY: 726866
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at