rs185301166
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS1
The NM_000245.4(MET):c.798G>A(p.Arg266Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000136 in 1,614,028 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000245.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.798G>A | p.Arg266Arg | synonymous_variant | Exon 2 of 21 | ENST00000397752.8 | NP_000236.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.798G>A | p.Arg266Arg | synonymous_variant | Exon 2 of 21 | 1 | NM_000245.4 | ENSP00000380860.3 | ||
MET | ENST00000318493.11 | c.798G>A | p.Arg266Arg | synonymous_variant | Exon 2 of 21 | 1 | ENSP00000317272.6 | |||
MET | ENST00000436117.3 | n.798G>A | non_coding_transcript_exon_variant | Exon 2 of 20 | 1 | ENSP00000410980.2 | ||||
MET | ENST00000422097.2 | c.798G>A | p.Arg266Arg | synonymous_variant | Exon 2 of 12 | 3 | ENSP00000398776.2 |
Frequencies
GnomAD3 genomes AF: 0.000690 AC: 105AN: 152104Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000165 AC: 41AN: 249064Hom.: 0 AF XY: 0.0000740 AC XY: 10AN XY: 135104
GnomAD4 exome AF: 0.0000794 AC: 116AN: 1461806Hom.: 1 Cov.: 32 AF XY: 0.0000591 AC XY: 43AN XY: 727210
GnomAD4 genome AF: 0.000683 AC: 104AN: 152222Hom.: 0 Cov.: 33 AF XY: 0.000632 AC XY: 47AN XY: 74418
ClinVar
Submissions by phenotype
not provided Benign:3
This variant is associated with the following publications: (PMID: 26375439) -
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Hereditary cancer-predisposing syndrome Benign:2
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. -
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MET-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Renal cell carcinoma Benign:1
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Papillary renal cell carcinoma type 1 Benign:1
This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at