rs372138746
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001024630.4(RUNX2):c.254C>A(p.Ala85Glu) 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. 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. A85V) has been classified as Likely benign.
Frequency
Consequence
NM_001024630.4 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 |
---|---|---|---|---|---|---|---|
RUNX2 | NM_001024630.4 | c.254C>A | p.Ala85Glu | missense_variant | 3/9 | ENST00000647337.2 | |
RUNX2 | NM_001369405.1 | c.212C>A | p.Ala71Glu | missense_variant | 1/7 | ||
RUNX2 | NM_001015051.4 | c.254C>A | p.Ala85Glu | missense_variant | 3/8 | ||
RUNX2 | NM_001278478.2 | c.212C>A | p.Ala71Glu | missense_variant | 1/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RUNX2 | ENST00000647337.2 | c.254C>A | p.Ala85Glu | missense_variant | 3/9 | NM_001024630.4 | P4 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1342798Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 664560
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at