rs752791731
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000397752.8(MET):c.4091C>A(p.Pro1364Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,732 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1364L) has been classified as Likely benign.
Frequency
Consequence
ENST00000397752.8 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.4091C>A | p.Pro1364Gln | missense_variant | 21/21 | ENST00000397752.8 | NP_000236.2 | |
MET | NM_001127500.3 | c.4145C>A | p.Pro1382Gln | missense_variant | 21/21 | NP_001120972.1 | ||
MET | NM_001324402.2 | c.2801C>A | p.Pro934Gln | missense_variant | 20/20 | NP_001311331.1 | ||
MET | XM_011516223.2 | c.4148C>A | p.Pro1383Gln | missense_variant | 22/22 | XP_011514525.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.4091C>A | p.Pro1364Gln | missense_variant | 21/21 | 1 | NM_000245.4 | ENSP00000380860 | P3 | |
MET | ENST00000318493.11 | c.4145C>A | p.Pro1382Gln | missense_variant | 21/21 | 1 | ENSP00000317272 | A2 | ||
MET | ENST00000436117.3 | c.*1696C>A | 3_prime_UTR_variant, NMD_transcript_variant | 20/20 | 1 | ENSP00000410980 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249304Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135234
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461732Hom.: 0 Cov.: 57 AF XY: 0.00 AC XY: 0AN XY: 727176
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at