rs201804321
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001382323.2(PKNOX2):c.665C>A(p.Ala222Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000743 in 1,614,036 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. A222V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001382323.2 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 |
---|---|---|---|---|---|---|---|---|
PKNOX2 | NM_001382323.2 | c.665C>A | p.Ala222Glu | missense_variant | Exon 8 of 13 | ENST00000298282.14 | NP_001369252.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249472Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135358
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461846Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 727232
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74406
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at