rs116001173
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_139125.4(MASP1):c.863G>T(p.Arg288Leu) 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. 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. R288Q) has been classified as Likely benign.
Frequency
Consequence
NM_139125.4 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 |
---|---|---|---|---|---|---|---|
MASP1 | NM_139125.4 | c.863G>T | p.Arg288Leu | missense_variant | 6/11 | ENST00000296280.11 | |
MASP1 | NM_001879.6 | c.863G>T | p.Arg288Leu | missense_variant | 6/16 | ENST00000337774.10 | |
MASP1 | NM_001031849.3 | c.863G>T | p.Arg288Leu | missense_variant | 6/9 | ||
MASP1 | NR_033519.2 | n.736G>T | non_coding_transcript_exon_variant | 5/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MASP1 | ENST00000296280.11 | c.863G>T | p.Arg288Leu | missense_variant | 6/11 | 1 | NM_139125.4 | ||
MASP1 | ENST00000337774.10 | c.863G>T | p.Arg288Leu | missense_variant | 6/16 | 1 | NM_001879.6 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at