chr1-46551161-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001322255.2(KNCN):c.55G>A(p.Ala19Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001322255.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KNCN | NM_001322255.2 | c.55G>A | p.Ala19Thr | missense_variant | Exon 1 of 4 | ENST00000481882.7 | NP_001309184.1 | |
KNCN | NM_001097611.1 | c.55G>A | p.Ala19Thr | missense_variant | Exon 1 of 3 | NP_001091080.1 | ||
MKNK1-AS1 | NR_038403.1 | n.255-7064C>T | intron_variant | Intron 3 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KNCN | ENST00000481882.7 | c.55G>A | p.Ala19Thr | missense_variant | Exon 1 of 4 | 5 | NM_001322255.2 | ENSP00000419705.3 | ||
KNCN | ENST00000396314.3 | c.55G>A | p.Ala19Thr | missense_variant | Exon 1 of 3 | 4 | ENSP00000379607.3 | |||
MKNK1-AS1 | ENST00000602433.1 | n.255-7064C>T | intron_variant | Intron 3 of 7 | 2 | |||||
MKNK1-AS1 | ENST00000657773.1 | n.260-7064C>T | intron_variant | Intron 2 of 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 244820Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133114
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.55G>A (p.A19T) alteration is located in exon 1 (coding exon 1) of the KNCN gene. This alteration results from a G to A substitution at nucleotide position 55, causing the alanine (A) at amino acid position 19 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at