rs3743563
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002428.4(MMP15):c.1825G>A(p.Gly609Arg) variant causes a missense change. The variant allele was found at a frequency of 0.217 in 1,608,266 control chromosomes in the GnomAD database, including 41,416 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002428.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP15 | NM_002428.4 | c.1825G>A | p.Gly609Arg | missense_variant | 10/10 | ENST00000219271.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP15 | ENST00000219271.4 | c.1825G>A | p.Gly609Arg | missense_variant | 10/10 | 1 | NM_002428.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.187 AC: 28400AN: 152108Hom.: 3355 Cov.: 33
GnomAD3 exomes AF: 0.237 AC: 56369AN: 237644Hom.: 8129 AF XY: 0.227 AC XY: 29208AN XY: 128610
GnomAD4 exome AF: 0.220 AC: 319777AN: 1456040Hom.: 38052 Cov.: 34 AF XY: 0.216 AC XY: 156602AN XY: 723798
GnomAD4 genome ? AF: 0.187 AC: 28421AN: 152226Hom.: 3364 Cov.: 33 AF XY: 0.194 AC XY: 14435AN XY: 74436
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at