7-116795989-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000245.4(MET):c.4038G>T(p.Gly1346Gly) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G1346G) has been classified as Benign.
Frequency
Consequence
NM_000245.4 synonymous
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.4038G>T | p.Gly1346Gly | synonymous_variant | Exon 21 of 21 | ENST00000397752.8 | NP_000236.2 | |
MET | NM_001127500.3 | c.4092G>T | p.Gly1364Gly | synonymous_variant | Exon 21 of 21 | NP_001120972.1 | ||
MET | NM_001324402.2 | c.2748G>T | p.Gly916Gly | synonymous_variant | Exon 20 of 20 | NP_001311331.1 | ||
MET | XM_011516223.2 | c.4095G>T | p.Gly1365Gly | synonymous_variant | Exon 22 of 22 | XP_011514525.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.4038G>T | p.Gly1346Gly | synonymous_variant | Exon 21 of 21 | 1 | NM_000245.4 | ENSP00000380860.3 | ||
MET | ENST00000318493.11 | c.4092G>T | p.Gly1364Gly | synonymous_variant | Exon 21 of 21 | 1 | ENSP00000317272.6 | |||
MET | ENST00000436117.3 | n.*1643G>T | non_coding_transcript_exon_variant | Exon 20 of 20 | 1 | ENSP00000410980.2 | ||||
MET | ENST00000436117.3 | n.*1643G>T | 3_prime_UTR_variant | Exon 20 of 20 | 1 | ENSP00000410980.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 57
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.