rs1554617573
Variant summary
Our verdict is Pathogenic. Variant got 18 ACMG points: 18P and 0B. PM1PM2PM5PP3_StrongPP5_Very_Strong
The NM_014112.5(TRPS1):c.2756T>C(p.Leu919Pro) 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 Likely pathogenic (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L919V) has been classified as Likely pathogenic.
Frequency
Consequence
NM_014112.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPS1 | NM_014112.5 | c.2756T>C | p.Leu919Pro | missense_variant | 6/7 | ENST00000395715.8 | |
TRPS1 | NM_001282903.3 | c.2735T>C | p.Leu912Pro | missense_variant | 6/7 | ||
TRPS1 | NM_001282902.3 | c.2729T>C | p.Leu910Pro | missense_variant | 5/6 | ||
TRPS1 | NM_001330599.2 | c.2717T>C | p.Leu906Pro | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPS1 | ENST00000395715.8 | c.2756T>C | p.Leu919Pro | missense_variant | 6/7 | 1 | NM_014112.5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Trichorhinophalangeal dysplasia type I Pathogenic:1Other:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | Apr 18, 2023 | PM2, PM6, PM1, PP3 - |
not provided, no classification provided | literature only | GeneReviews | - | - - |
not provided Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at