rs797045052
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001145715.3(KPNA7):c.1046T>C(p.Leu349Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,399,598 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. L349L) has been classified as Likely benign.
Frequency
Consequence
NM_001145715.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KPNA7 | NM_001145715.3 | c.1046T>C | p.Leu349Pro | missense_variant | 8/11 | ENST00000327442.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KPNA7 | ENST00000327442.7 | c.1046T>C | p.Leu349Pro | missense_variant | 8/11 | 1 | NM_001145715.3 | P1 | |
KPNA7 | ENST00000681060.1 | c.1046T>C | p.Leu349Pro | missense_variant | 8/11 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1399598Hom.: 0 Cov.: 31 AF XY: 0.00000145 AC XY: 1AN XY: 690290
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Intellectual disability, mild Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Oct 07, 2014 | This variant was found once in our laboratory in trans with a nonsense variant [R36X] in an 18-year-old male with regression and mild intellectual disability. However, a brother with delays was heterozygous for the nonsense variant and did not carry this variant. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at