NM_000245.4:c.2584-8_2584-7dupCC
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_000245.4(MET):c.2584-8_2584-7dupCC variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000125 in 1,601,212 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000245.4 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.2584-8_2584-7dupCC | splice_region_variant, intron_variant | Intron 11 of 20 | ENST00000397752.8 | NP_000236.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000689 AC: 1AN: 145078Hom.: 0 Cov.: 31
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456134Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 724562
GnomAD4 genome AF: 0.00000689 AC: 1AN: 145078Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 70606
ClinVar
Submissions by phenotype
Papillary renal cell carcinoma type 1 Benign:1
This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at