1-1632324-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006983.2(MMP23B):c.106C>T(p.Leu36Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000014 in 1,428,158 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006983.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMP23B | NM_006983.2 | c.106C>T | p.Leu36Leu | synonymous_variant | Exon 1 of 8 | ENST00000356026.10 | NP_008914.1 | |
MMP23B | XM_047432837.1 | c.106C>T | p.Leu36Leu | synonymous_variant | Exon 1 of 8 | XP_047288793.1 | ||
MMP23B | XM_047432838.1 | c.106C>T | p.Leu36Leu | synonymous_variant | Exon 1 of 8 | XP_047288794.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MMP23B | ENST00000356026.10 | c.106C>T | p.Leu36Leu | synonymous_variant | Exon 1 of 8 | 1 | NM_006983.2 | ENSP00000348308.5 | ||
MMP23B | ENST00000378675.7 | c.106C>T | p.Leu36Leu | synonymous_variant | Exon 1 of 7 | 1 | ENSP00000367945.3 | |||
MMP23B | ENST00000472264.1 | c.106C>T | p.Leu36Leu | synonymous_variant | Exon 1 of 3 | 3 | ENSP00000424976.1 | |||
MMP23B | ENST00000512731.5 | n.106C>T | non_coding_transcript_exon_variant | Exon 1 of 6 | 2 | ENSP00000423780.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 29
GnomAD4 exome AF: 7.84e-7 AC: 1AN: 1275988Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 626780
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at