7-116672385-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000245.4(MET):c.-207C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.44 in 371,524 control chromosomes in the GnomAD database, including 37,707 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000245.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.-207C>G | 5_prime_UTR_variant | Exon 1 of 21 | ENST00000397752.8 | NP_000236.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.408 AC: 61456AN: 150456Hom.: 13506 Cov.: 32
GnomAD4 exome AF: 0.462 AC: 102098AN: 220960Hom.: 24197 Cov.: 0 AF XY: 0.462 AC XY: 52121AN XY: 112870
GnomAD4 genome AF: 0.408 AC: 61475AN: 150564Hom.: 13510 Cov.: 32 AF XY: 0.418 AC XY: 30704AN XY: 73514
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 17053076, 24150225, 24909855, 23097380, 19681062) -
Renal cell carcinoma Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at