7-116778878-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 6P and 2B. PM1PM2PM5BP4_Moderate
The NM_000245.4(MET):c.3443G>C(p.Arg1148Pro) 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. 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. R1148Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000245.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.3443G>C | p.Arg1148Pro | missense_variant | 17/21 | ENST00000397752.8 | |
MET | NM_001127500.3 | c.3497G>C | p.Arg1166Pro | missense_variant | 17/21 | ||
MET | NM_001324402.2 | c.2153G>C | p.Arg718Pro | missense_variant | 16/20 | ||
MET | XM_011516223.2 | c.3500G>C | p.Arg1167Pro | missense_variant | 18/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.3443G>C | p.Arg1148Pro | missense_variant | 17/21 | 1 | NM_000245.4 | P3 | |
MET | ENST00000318493.11 | c.3497G>C | p.Arg1166Pro | missense_variant | 17/21 | 1 | A2 | ||
MET | ENST00000436117.3 | c.*1048G>C | 3_prime_UTR_variant, NMD_transcript_variant | 16/20 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
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.