7-116795666-C-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_000245.4(MET):c.3810C>G(p.Gly1270=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,622 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. G1270G) has been classified as Likely benign.
Frequency
Consequence
NM_000245.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.3810C>G | p.Gly1270= | synonymous_variant | 20/21 | ENST00000397752.8 | |
MET | NM_001127500.3 | c.3864C>G | p.Gly1288= | synonymous_variant | 20/21 | ||
MET | NM_001324402.2 | c.2520C>G | p.Gly840= | synonymous_variant | 19/20 | ||
MET | XM_011516223.2 | c.3867C>G | p.Gly1289= | synonymous_variant | 21/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.3810C>G | p.Gly1270= | synonymous_variant | 20/21 | 1 | NM_000245.4 | P3 | |
MET | ENST00000318493.11 | c.3864C>G | p.Gly1288= | synonymous_variant | 20/21 | 1 | A2 | ||
MET | ENST00000436117.3 | c.*1415C>G | 3_prime_UTR_variant, NMD_transcript_variant | 19/20 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249350Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135292
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461622Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727136
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Renal cell carcinoma Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 10, 2021 | - - |
Hereditary cancer-predisposing syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 16, 2020 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at