rs375576430
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000245.4(MET):c.2825C>A(p.Ser942Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000245.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.2825C>A | p.Ser942Ter | stop_gained | 13/21 | ENST00000397752.8 | |
MET | NM_001127500.3 | c.2879C>A | p.Ser960Ter | stop_gained | 13/21 | ||
MET | NM_001324402.2 | c.1535C>A | p.Ser512Ter | stop_gained | 12/20 | ||
MET | XM_011516223.2 | c.2882C>A | p.Ser961Ter | stop_gained | 14/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.2825C>A | p.Ser942Ter | stop_gained | 13/21 | 1 | NM_000245.4 | P3 | |
MET | ENST00000318493.11 | c.2879C>A | p.Ser960Ter | stop_gained | 13/21 | 1 | A2 | ||
MET | ENST00000436117.3 | c.*430C>A | 3_prime_UTR_variant, NMD_transcript_variant | 12/20 | 1 | ||||
MET | ENST00000454623.1 | c.221C>A | p.Ser74Ter | stop_gained | 2/3 | 5 |
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
Publications
No publications associated with this variant yet.