8-42176099-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000930.5(PLAT):c.1583T>G(p.Val528Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,613,876 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000930.5 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 |
---|---|---|---|---|---|---|---|---|
PLAT | NM_000930.5 | c.1583T>G | p.Val528Gly | missense_variant | Exon 14 of 14 | ENST00000220809.9 | NP_000921.1 | |
PLAT | NM_033011.4 | c.1445T>G | p.Val482Gly | missense_variant | Exon 13 of 13 | NP_127509.1 | ||
PLAT | NM_001319189.2 | c.1316T>G | p.Val439Gly | missense_variant | Exon 12 of 12 | NP_001306118.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250922Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135628
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461680Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727132
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1583T>G (p.V528G) alteration is located in exon 14 (coding exon 13) of the PLAT gene. This alteration results from a T to G substitution at nucleotide position 1583, causing the valine (V) at amino acid position 528 to be replaced by a glycine (G). 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