chr7-116757478-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_000245.4(MET):c.1904A>T(p.Asn635Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. N635S) has been classified as Uncertain significance.
Frequency
Consequence
NM_000245.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.1904A>T | p.Asn635Ile | missense_variant | 7/21 | ENST00000397752.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.1904A>T | p.Asn635Ile | missense_variant | 7/21 | 1 | NM_000245.4 | P3 | |
MET | ENST00000318493.11 | c.1904A>T | p.Asn635Ile | missense_variant | 7/21 | 1 | A2 | ||
MET | ENST00000436117.3 | c.1904A>T | p.Asn635Ile | missense_variant, NMD_transcript_variant | 7/20 | 1 | |||
MET | ENST00000422097.2 | c.1904A>T | p.Asn635Ile | missense_variant | 7/12 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461536Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727096
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.