12-64424704-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007235.6(XPOT):c.1288G>A(p.Val430Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,442 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007235.6 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
XPOT | NM_007235.6 | c.1288G>A | p.Val430Ile | missense_variant | 12/25 | ENST00000332707.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
XPOT | ENST00000332707.10 | c.1288G>A | p.Val430Ile | missense_variant | 12/25 | 2 | NM_007235.6 | P1 | |
XPOT | ENST00000542958.5 | n.171G>A | non_coding_transcript_exon_variant | 2/8 | 5 | ||||
XPOT | ENST00000538086.5 | c.1G>A | p.Val1Ile | missense_variant, NMD_transcript_variant | 1/7 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461442Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727008
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at