chr12-55837113-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_002429.6(MMP19):c.1450G>A(p.Gly484Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00193 in 1,613,138 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002429.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP19 | NM_002429.6 | c.1450G>A | p.Gly484Arg | missense_variant | 9/9 | ENST00000322569.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP19 | ENST00000322569.9 | c.1450G>A | p.Gly484Arg | missense_variant | 9/9 | 1 | NM_002429.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00104 AC: 159AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00110 AC: 275AN: 250644Hom.: 2 AF XY: 0.00108 AC XY: 146AN XY: 135408
GnomAD4 exome AF: 0.00203 AC: 2962AN: 1460866Hom.: 5 Cov.: 31 AF XY: 0.00202 AC XY: 1466AN XY: 726598
GnomAD4 genome AF: 0.00104 AC: 159AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.000927 AC XY: 69AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 21, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at