rs2177336
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018406.7(MUC4):c.1573A>T(p.Thr525Ser) 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. 13/17 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_018406.7 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC4 | NM_018406.7 | c.1573A>T | p.Thr525Ser | missense_variant | 2/25 | ENST00000463781.8 | NP_060876.5 | |
MUC4 | NM_004532.6 | c.83-11552A>T | intron_variant | NP_004523.3 | ||||
MUC4 | NM_138297.5 | c.83-15702A>T | intron_variant | NP_612154.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC4 | ENST00000463781.8 | c.1573A>T | p.Thr525Ser | missense_variant | 2/25 | 5 | NM_018406.7 | ENSP00000417498 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 85
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at