rs6672420
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001031680.2(RUNX3):c.53T>C(p.Ile18Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts 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. I18N) has been classified as Benign.
Frequency
Consequence
NM_001031680.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RUNX3 | NM_001031680.2 | c.53T>C | p.Ile18Thr | missense_variant | 1/6 | NP_001026850.1 | ||
RUNX3 | NM_001320672.1 | c.53T>C | p.Ile18Thr | missense_variant | 2/7 | NP_001307601.1 | ||
RUNX3 | XM_005246024.5 | c.53T>C | p.Ile18Thr | missense_variant | 2/7 | XP_005246081.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RUNX3 | ENST00000338888.4 | c.53T>C | p.Ile18Thr | missense_variant | 2/7 | 1 | ENSP00000343477.3 | |||
RUNX3 | ENST00000479341.1 | n.163T>C | non_coding_transcript_exon_variant | 2/3 | 1 | |||||
RUNX3 | ENST00000399916.5 | c.53T>C | p.Ile18Thr | missense_variant | 1/6 | 2 | ENSP00000382800.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 36
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at