rs774433287
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000245.4(MET):c.2974A>C(p.Thr992Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts 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. T992I) has been classified as Likely benign.
Frequency
Consequence
NM_000245.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.2974A>C | p.Thr992Pro | missense_variant | 14/21 | ENST00000397752.8 | |
MET | NM_001127500.3 | c.3028A>C | p.Thr1010Pro | missense_variant | 14/21 | ||
MET | NM_001324402.2 | c.1684A>C | p.Thr562Pro | missense_variant | 13/20 | ||
MET | XM_011516223.2 | c.3031A>C | p.Thr1011Pro | missense_variant | 15/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.2974A>C | p.Thr992Pro | missense_variant | 14/21 | 1 | NM_000245.4 | P3 | |
MET | ENST00000318493.11 | c.3028A>C | p.Thr1010Pro | missense_variant | 14/21 | 1 | A2 | ||
MET | ENST00000436117.3 | c.*579A>C | 3_prime_UTR_variant, NMD_transcript_variant | 13/20 | 1 | ||||
MET | ENST00000454623.1 | c.283+281A>C | intron_variant | 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.