1-213997241-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001270616.2(PROX1):c.706C>T(p.Arg236Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,460,336 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001270616.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PROX1 | ENST00000366958.9 | c.706C>T | p.Arg236Cys | missense_variant | Exon 2 of 5 | 1 | NM_001270616.2 | ENSP00000355925.4 | ||
PROX1 | ENST00000435016.2 | c.706C>T | p.Arg236Cys | missense_variant | Exon 2 of 5 | 1 | ENSP00000400694.1 | |||
PROX1 | ENST00000471129.1 | c.*16C>T | downstream_gene_variant | 3 | ENSP00000419517.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460336Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726426
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.706C>T (p.R236C) alteration is located in exon 2 (coding exon 1) of the PROX1 gene. This alteration results from a C to T substitution at nucleotide position 706, causing the arginine (R) at amino acid position 236 to be replaced by a cysteine (C). 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
Publications
No publications associated with this variant yet.