rs201564256
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_006371.5(CRTAP):āc.446A>Cā(p.Lys149Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000689 in 1,450,684 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. K149R) has been classified as Uncertain significance.
Frequency
Consequence
NM_006371.5 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 |
---|---|---|---|---|---|---|---|
CRTAP | NM_006371.5 | c.446A>C | p.Lys149Thr | missense_variant | 1/7 | ENST00000320954.11 | |
CRTAP | NM_001393363.1 | c.446A>C | p.Lys149Thr | missense_variant | 1/6 | ||
CRTAP | NM_001393364.1 | c.446A>C | p.Lys149Thr | missense_variant | 1/6 | ||
CRTAP | NM_001393365.1 | c.446A>C | p.Lys149Thr | missense_variant | 1/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRTAP | ENST00000320954.11 | c.446A>C | p.Lys149Thr | missense_variant | 1/7 | 1 | NM_006371.5 | P1 | |
CRTAP | ENST00000449224.1 | c.446A>C | p.Lys149Thr | missense_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450684Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 720832
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at