8-21981826-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_015024.5(XPO7):āc.1053C>Gā(p.Asn351Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015024.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
XPO7 | NM_015024.5 | c.1053C>G | p.Asn351Lys | missense_variant | Exon 10 of 28 | ENST00000252512.14 | NP_055839.3 | |
XPO7 | NM_001100161.2 | c.1080C>G | p.Asn360Lys | missense_variant | Exon 10 of 28 | NP_001093631.1 | ||
XPO7 | NM_001362802.2 | c.987C>G | p.Asn329Lys | missense_variant | Exon 9 of 27 | NP_001349731.1 | ||
XPO7 | NR_156173.2 | n.1162C>G | non_coding_transcript_exon_variant | Exon 10 of 29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
XPO7 | ENST00000252512.14 | c.1053C>G | p.Asn351Lys | missense_variant | Exon 10 of 28 | 1 | NM_015024.5 | ENSP00000252512.9 | ||
XPO7 | ENST00000433566.8 | c.1056C>G | p.Asn352Lys | missense_variant | Exon 10 of 28 | 5 | ENSP00000410249.3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249232Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135204
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1053C>G (p.N351K) alteration is located in exon 10 (coding exon 10) of the XPO7 gene. This alteration results from a C to G substitution at nucleotide position 1053, causing the asparagine (N) at amino acid position 351 to be replaced by a lysine (K). 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