chr8-42179978-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000930.5(PLAT):c.1311G>C(p.Gln437His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000497 in 1,608,656 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_000930.5 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 |
---|---|---|---|---|---|---|---|---|
PLAT | NM_000930.5 | c.1311G>C | p.Gln437His | missense_variant | Exon 12 of 14 | ENST00000220809.9 | NP_000921.1 | |
PLAT | NM_033011.4 | c.1173G>C | p.Gln391His | missense_variant | Exon 11 of 13 | NP_127509.1 | ||
PLAT | NM_001319189.2 | c.1044G>C | p.Gln348His | missense_variant | Exon 10 of 12 | NP_001306118.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152264Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000481 AC: 7AN: 1456392Hom.: 0 Cov.: 32 AF XY: 0.00000414 AC XY: 3AN XY: 724126
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1311G>C (p.Q437H) alteration is located in exon 12 (coding exon 11) of the PLAT gene. This alteration results from a G to C substitution at nucleotide position 1311, causing the glutamine (Q) at amino acid position 437 to be replaced by a histidine (H). 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