rs1254370015
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_006690.4(MMP24):āc.46C>Gā(p.Pro16Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P16S) has been classified as Uncertain significance.
Frequency
Consequence
NM_006690.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMP24 | NM_006690.4 | c.46C>G | p.Pro16Ala | missense_variant | Exon 1 of 9 | ENST00000246186.8 | NP_006681.1 | |
MMP24 | XM_017027597.2 | c.46C>G | p.Pro16Ala | missense_variant | Exon 1 of 8 | XP_016883086.1 | ||
MMP24 | XM_011528500.3 | c.46C>G | p.Pro16Ala | missense_variant | Exon 1 of 8 | XP_011526802.1 | ||
MMP24-AS1-EDEM2 | NM_001355008.2 | c.-351-8723G>C | intron_variant | Intron 3 of 14 | NP_001341937.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 1722Hom.: 0 Cov.: 0 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 784660Hom.: 0 Cov.: 15 AF XY: 0.00 AC XY: 0AN XY: 362812
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1722Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 884
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.