rs2517449
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080870.4(MUCL3):c.3460T>A(p.Leu1154Met) 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. 12/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_080870.4 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 |
---|---|---|---|---|---|---|---|
MUCL3 | NM_080870.4 | c.3460T>A | p.Leu1154Met | missense_variant | 2/3 | ENST00000462446.6 | |
HCG21 | NR_138040.1 | n.256+438A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUCL3 | ENST00000462446.6 | c.3460T>A | p.Leu1154Met | missense_variant | 2/3 | 5 | NM_080870.4 | A2 | |
HCG21 | ENST00000419481.1 | n.224+1143A>T | intron_variant, non_coding_transcript_variant | 3 | |||||
MUCL3 | ENST00000636043.1 | c.3661T>A | p.Leu1221Met | missense_variant | 5/6 | 5 | P4 | ||
SFTA2 | ENST00000634371.1 | c.-9+438A>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 97
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at