20-35226886-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006690.4(MMP24):c.148G>A(p.Ala50Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A50P) has been classified as Uncertain significance.
Frequency
Consequence
NM_006690.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP24 | NM_006690.4 | c.148G>A | p.Ala50Thr | missense_variant | 1/9 | ENST00000246186.8 | |
MMP24-AS1-EDEM2 | NM_001355008.2 | c.-351-8825C>T | intron_variant | ||||
MMP24 | XM_017027597.2 | c.148G>A | p.Ala50Thr | missense_variant | 1/8 | ||
MMP24 | XM_011528500.3 | c.148G>A | p.Ala50Thr | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP24 | ENST00000246186.8 | c.148G>A | p.Ala50Thr | missense_variant | 1/9 | 1 | NM_006690.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 835414Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 386272
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 05, 2023 | The c.148G>A (p.A50T) alteration is located in exon (coding exon ) of the MMP24 gene. This alteration results from a G to A substitution at nucleotide position 148, causing the alanine (A) at amino acid position 50 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.