8-115414076-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_014112.5(TRPS1):c.3832G>A(p.Gly1278Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G1278A) has been classified as Uncertain significance.
Frequency
Consequence
NM_014112.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRPS1 | NM_014112.5 | c.3832G>A | p.Gly1278Ser | missense_variant | Exon 7 of 7 | ENST00000395715.8 | NP_054831.2 | |
TRPS1 | NM_001282903.3 | c.3811G>A | p.Gly1271Ser | missense_variant | Exon 7 of 7 | NP_001269832.1 | ||
TRPS1 | NM_001282902.3 | c.3805G>A | p.Gly1269Ser | missense_variant | Exon 6 of 6 | NP_001269831.1 | ||
TRPS1 | NM_001330599.2 | c.3793G>A | p.Gly1265Ser | missense_variant | Exon 6 of 6 | NP_001317528.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.