rs14070
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004530.6(MMP2):c.1806C>A(p.Phe602Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. F602F) has been classified as Benign.
Frequency
Consequence
NM_004530.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMP2 | NM_004530.6 | c.1806C>A | p.Phe602Leu | missense_variant | 12/13 | ENST00000219070.9 | NP_004521.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MMP2 | ENST00000219070.9 | c.1806C>A | p.Phe602Leu | missense_variant | 12/13 | 1 | NM_004530.6 | ENSP00000219070.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 43
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at