20-35226886-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006690.4(MMP24):āc.148G>Cā(p.Ala50Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000689 in 145,052 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (ā ).
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMP24 | NM_006690.4 | c.148G>C | p.Ala50Pro | missense_variant | 1/9 | ENST00000246186.8 | NP_006681.1 | |
MMP24 | XM_017027597.2 | c.148G>C | p.Ala50Pro | missense_variant | 1/8 | XP_016883086.1 | ||
MMP24 | XM_011528500.3 | c.148G>C | p.Ala50Pro | missense_variant | 1/8 | XP_011526802.1 | ||
MMP24-AS1-EDEM2 | NM_001355008.2 | c.-351-8825C>G | intron_variant | NP_001341937.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MMP24 | ENST00000246186.8 | c.148G>C | p.Ala50Pro | missense_variant | 1/9 | 1 | NM_006690.4 | ENSP00000246186.6 |
Frequencies
GnomAD3 genomes AF: 0.00000689 AC: 1AN: 145052Hom.: 0 Cov.: 29
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000689 AC: 1AN: 145052Hom.: 0 Cov.: 29 AF XY: 0.0000142 AC XY: 1AN XY: 70484
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 23, 2022 | The c.148G>C (p.A50P) alteration is located in exon (coding exon ) of the MMP24 gene. This alteration results from a G to C substitution at nucleotide position 148, causing the alanine (A) at amino acid position 50 to be replaced by a proline (P). 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