7-99173752-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001145715.3(KPNA7):c.1507C>T(p.Gln503Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 1,399,418 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. Q503Q) has been classified as Likely benign.
Frequency
Consequence
NM_001145715.3 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KPNA7 | NM_001145715.3 | c.1507C>T | p.Gln503Ter | stop_gained | 11/11 | ENST00000327442.7 | |
KPNA7 | XM_011516215.3 | c.1588C>T | p.Gln530Ter | stop_gained | 11/11 | ||
KPNA7 | XM_017012211.2 | c.1545+4168C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KPNA7 | ENST00000327442.7 | c.1507C>T | p.Gln503Ter | stop_gained | 11/11 | 1 | NM_001145715.3 | P1 | |
KPNA7 | ENST00000681060.1 | c.1507C>T | p.Gln503Ter | stop_gained | 11/11 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000164 AC: 23AN: 1399418Hom.: 0 Cov.: 29 AF XY: 0.0000145 AC XY: 10AN XY: 690188
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Apr 16, 2021 | This sequence change results in a premature translational stop signal in the KPNA7 gene (p.Gln503*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acids of the KPNA7 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KPNA7-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at