rs17851637
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005952.4(MT1X):c.66A>C(p.Lys22Asn) 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K22E) has been classified as Uncertain significance.
Frequency
Consequence
NM_005952.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MT1X | NM_005952.4 | c.66A>C | p.Lys22Asn | missense_variant | 2/3 | ENST00000394485.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT1X | ENST00000394485.5 | c.66A>C | p.Lys22Asn | missense_variant | 2/3 | 1 | NM_005952.4 | P1 | |
MT1X | ENST00000562939.1 | c.66A>C | p.Lys22Asn | missense_variant | 2/2 | 1 | |||
MT1X | ENST00000564974.1 | c.66A>C | p.Lys22Asn | missense_variant, NMD_transcript_variant | 2/3 | 1 | |||
MT1X | ENST00000568370.1 | n.733A>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at