11-102693929-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022122.3(MMP27):āc.1170C>Gā(p.Phe390Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000137 in 1,602,570 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 24AN: 241432Hom.: 0 AF XY: 0.000115 AC XY: 15AN XY: 130592
GnomAD4 exome AF: 0.000140 AC: 203AN: 1450394Hom.: 0 Cov.: 30 AF XY: 0.000136 AC XY: 98AN XY: 721232
GnomAD4 genome AF: 0.000105 AC: 16AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1170C>G (p.F390L) alteration is located in exon 8 (coding exon 8) of the MMP27 gene. This alteration results from a C to G substitution at nucleotide position 1170, causing the phenylalanine (F) at amino acid position 390 to be replaced by a leucine (L). 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