chr14-22841491-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP3BP6_Moderate
The NM_004995.4(MMP14):c.109G>C(p.Ala37Pro) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00026 in 1,613,478 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_004995.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP14 | NM_004995.4 | c.109G>C | p.Ala37Pro | missense_variant, splice_region_variant | 2/10 | ENST00000311852.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP14 | ENST00000311852.11 | c.109G>C | p.Ala37Pro | missense_variant, splice_region_variant | 2/10 | 1 | NM_004995.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00158 AC: 240AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000391 AC: 98AN: 250344Hom.: 0 AF XY: 0.000288 AC XY: 39AN XY: 135318
GnomAD4 exome AF: 0.000122 AC: 178AN: 1461208Hom.: 0 Cov.: 32 AF XY: 0.0000853 AC XY: 62AN XY: 726902
GnomAD4 genome ? AF: 0.00159 AC: 242AN: 152270Hom.: 0 Cov.: 33 AF XY: 0.00149 AC XY: 111AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 22, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at