rs10431961
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_022468.5(MMP25):āc.318C>Gā(p.Arg106Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,458,936 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_022468.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMP25 | NM_022468.5 | c.318C>G | p.Arg106Arg | synonymous_variant | Exon 3 of 10 | ENST00000336577.9 | NP_071913.1 | |
MMP25 | XM_024450391.2 | c.216C>G | p.Arg72Arg | synonymous_variant | Exon 2 of 9 | XP_024306159.1 | ||
MMP25 | XM_017023561.2 | c.318C>G | p.Arg106Arg | synonymous_variant | Exon 3 of 6 | XP_016879050.1 | ||
MMP25 | XM_024450390.2 | c.232+2547C>G | intron_variant | Intron 2 of 7 | XP_024306158.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248244Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134600
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1458936Hom.: 0 Cov.: 46 AF XY: 0.00 AC XY: 0AN XY: 725852
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at