11-102691843-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022122.3(MMP27):āc.1465A>Gā(p.Ile489Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,018 control chromosomes in the GnomAD database, including 1 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 Uncertain significance (ā ).
Frequency
Consequence
NM_022122.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 250888Hom.: 1 AF XY: 0.000103 AC XY: 14AN XY: 135614
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1460714Hom.: 1 Cov.: 30 AF XY: 0.0000275 AC XY: 20AN XY: 726704
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152304Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1465A>G (p.I489V) alteration is located in exon 10 (coding exon 10) of the MMP27 gene. This alteration results from a A to G substitution at nucleotide position 1465, causing the isoleucine (I) at amino acid position 489 to be replaced by a valine (V). 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