rs148789705
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_022122.3(MMP27):āc.892T>Cā(p.Phe298Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000855 in 1,613,606 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 (ā ).
Frequency
Consequence
NM_022122.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000837 AC: 21AN: 251004Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135640
GnomAD4 exome AF: 0.0000890 AC: 130AN: 1461398Hom.: 0 Cov.: 30 AF XY: 0.0000935 AC XY: 68AN XY: 727008
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.892T>C (p.F298L) alteration is located in exon 6 (coding exon 6) of the MMP27 gene. This alteration results from a T to C substitution at nucleotide position 892, causing the phenylalanine (F) at amino acid position 298 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