rs1928529
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007059601.1(RUNX2-AS1):n.388-3761G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.348 in 151,994 control chromosomes in the GnomAD database, including 10,044 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
XR_007059601.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RUNX2-AS1 | XR_007059601.1 | n.388-3761G>A | intron_variant, non_coding_transcript_variant | ||||
RUNX2-AS1 | XR_007059599.1 | n.1106-30G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RUNX2 | ENST00000576263.5 | c.1021+54021C>T | intron_variant | 5 | |||||
RUNX2 | ENST00000478660.6 | c.*178+52775C>T | intron_variant, NMD_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.347 AC: 52766AN: 151876Hom.: 10028 Cov.: 32
GnomAD4 genome ? AF: 0.348 AC: 52829AN: 151994Hom.: 10044 Cov.: 32 AF XY: 0.344 AC XY: 25554AN XY: 74296
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at