12-131840694-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_016155.7(MMP17):c.544G>A(p.Ala182Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.477 in 1,606,054 control chromosomes in the GnomAD database, including 183,664 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016155.7 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 |
---|---|---|---|---|---|---|---|
MMP17 | NM_016155.7 | c.544G>A | p.Ala182Thr | missense_variant | 4/10 | ENST00000360564.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP17 | ENST00000360564.5 | c.544G>A | p.Ala182Thr | missense_variant | 4/10 | 1 | NM_016155.7 | P1 |
Frequencies
GnomAD3 genomes AF: 0.464 AC: 70584AN: 152078Hom.: 16410 Cov.: 35
GnomAD3 exomes AF: 0.473 AC: 115453AN: 244164Hom.: 27586 AF XY: 0.470 AC XY: 62439AN XY: 132874
GnomAD4 exome AF: 0.479 AC: 696056AN: 1453856Hom.: 167242 Cov.: 81 AF XY: 0.476 AC XY: 344673AN XY: 723648
GnomAD4 genome AF: 0.464 AC: 70631AN: 152198Hom.: 16422 Cov.: 35 AF XY: 0.460 AC XY: 34241AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at