rs768627036
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000245.4(MET):c.3864C>A(p.Asn1288Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. N1288N) has been classified as Likely benign.
Frequency
Consequence
NM_000245.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MET | NM_000245.4 | c.3864C>A | p.Asn1288Lys | missense_variant | 20/21 | ENST00000397752.8 | |
MET | NM_001127500.3 | c.3918C>A | p.Asn1306Lys | missense_variant | 20/21 | ||
MET | NM_001324402.2 | c.2574C>A | p.Asn858Lys | missense_variant | 19/20 | ||
MET | XM_011516223.2 | c.3921C>A | p.Asn1307Lys | missense_variant | 21/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MET | ENST00000397752.8 | c.3864C>A | p.Asn1288Lys | missense_variant | 20/21 | 1 | NM_000245.4 | P3 | |
MET | ENST00000318493.11 | c.3918C>A | p.Asn1306Lys | missense_variant | 20/21 | 1 | A2 | ||
MET | ENST00000436117.3 | c.*1469C>A | 3_prime_UTR_variant, NMD_transcript_variant | 19/20 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 61
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.