rs2069941
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001355008.2(MMP24-AS1-EDEM2):c.-101-5712G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00369 in 152,220 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NM_001355008.2 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP24-AS1-EDEM2 | NM_001355008.2 | c.-101-5712G>A | intron_variant | ||||
PROCR | XM_011528496.2 | c.45+364C>T | intron_variant | ||||
PROCR | XM_047439830.1 | c.45+364C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.00369 AC: 562AN: 152102Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.00369 AC: 562AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.00361 AC XY: 269AN XY: 74420
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at