rs2259275
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001015052.3(MPG):c.132C>A(p.Ser44=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,684 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_001015052.3 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MPG | NM_001015052.3 | c.132C>A | p.Ser44= | synonymous_variant | 2/4 | ENST00000356432.8 | NP_001015052.1 | |
MPG | NM_002434.4 | c.147C>A | p.Ser49= | synonymous_variant | 3/5 | NP_002425.2 | ||
MPG | NM_001015054.3 | c.96C>A | p.Ser32= | synonymous_variant | 2/4 | NP_001015054.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MPG | ENST00000356432.8 | c.132C>A | p.Ser44= | synonymous_variant | 2/4 | 1 | NM_001015052.3 | ENSP00000348809 | P2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249566Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135450
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460684Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726658
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at