7-116778932-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_000245.4(MET):c.3497G>T(p.Arg1166Leu) variant causes a missense change involving the alteration of a 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1166Q) has been classified as Likely benign.
Frequency
Consequence
NM_000245.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.3497G>T | p.Arg1166Leu | missense_variant | 17/21 | ENST00000397752.8 | |
MET | NM_001127500.3 | c.3551G>T | p.Arg1184Leu | missense_variant | 17/21 | ||
MET | NM_001324402.2 | c.2207G>T | p.Arg736Leu | missense_variant | 16/20 | ||
MET | XM_011516223.2 | c.3554G>T | p.Arg1185Leu | missense_variant | 18/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.3497G>T | p.Arg1166Leu | missense_variant | 17/21 | 1 | NM_000245.4 | P3 | |
MET | ENST00000318493.11 | c.3551G>T | p.Arg1184Leu | missense_variant | 17/21 | 1 | A2 | ||
MET | ENST00000436117.3 | c.*1102G>T | 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.