11-102693933-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_022122.3(MMP27):āc.1166A>Gā(p.Tyr389Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000623 in 1,604,790 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000165 AC: 4AN: 242992Hom.: 0 AF XY: 0.00000761 AC XY: 1AN XY: 131434
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1452522Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 722380
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1166A>G (p.Y389C) alteration is located in exon 8 (coding exon 8) of the MMP27 gene. This alteration results from a A to G substitution at nucleotide position 1166, causing the tyrosine (Y) at amino acid position 389 to be replaced by a cysteine (C). 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