16-58037482-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_002428.4(MMP15):c.173G>A(p.Arg58Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,613,698 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R58W) has been classified as Uncertain significance.
Frequency
Consequence
NM_002428.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP15 | NM_002428.4 | c.173G>A | p.Arg58Gln | missense_variant | 2/10 | ENST00000219271.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP15 | ENST00000219271.4 | c.173G>A | p.Arg58Gln | missense_variant | 2/10 | 1 | NM_002428.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000177 AC: 27AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000204 AC: 51AN: 250106Hom.: 0 AF XY: 0.000236 AC XY: 32AN XY: 135364
GnomAD4 exome AF: 0.000127 AC: 185AN: 1461346Hom.: 3 Cov.: 31 AF XY: 0.000164 AC XY: 119AN XY: 726996
GnomAD4 genome ? AF: 0.000177 AC: 27AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.000188 AC XY: 14AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 19, 2022 | The c.173G>A (p.R58Q) alteration is located in exon 2 (coding exon 2) of the MMP15 gene. This alteration results from a G to A substitution at nucleotide position 173, causing the arginine (R) at amino acid position 58 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at