12-131840614-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016155.7(MMP17):c.464C>T(p.Thr155Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000193 in 1,604,200 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. T155S) has been classified as Uncertain significance.
Frequency
Consequence
NM_016155.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP17 | NM_016155.7 | c.464C>T | p.Thr155Met | missense_variant | 4/10 | ENST00000360564.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP17 | ENST00000360564.5 | c.464C>T | p.Thr155Met | missense_variant | 4/10 | 1 | NM_016155.7 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000203 AC: 5AN: 246026Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133642
GnomAD4 exome AF: 0.0000207 AC: 30AN: 1451966Hom.: 0 Cov.: 30 AF XY: 0.0000222 AC XY: 16AN XY: 721548
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2022 | The c.464C>T (p.T155M) alteration is located in exon 4 (coding exon 4) of the MMP17 gene. This alteration results from a C to T substitution at nucleotide position 464, causing the threonine (T) at amino acid position 155 to be replaced by a methionine (M). 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