chr9-99828473-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006981.4(NR4A3):c.431C>G(p.Thr144Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006981.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NR4A3 | NM_006981.4 | c.431C>G | p.Thr144Ser | missense_variant | Exon 3 of 8 | ENST00000395097.7 | NP_008912.2 | |
NR4A3 | NM_173200.3 | c.464C>G | p.Thr155Ser | missense_variant | Exon 4 of 9 | NP_775292.1 | ||
NR4A3 | NM_173199.4 | c.431C>G | p.Thr144Ser | missense_variant | Exon 3 of 5 | NP_775291.1 | ||
NR4A3 | XM_017015162.2 | c.431C>G | p.Thr144Ser | missense_variant | Exon 4 of 9 | XP_016870651.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.464C>G (p.T155S) alteration is located in exon 4 (coding exon 2) of the NR4A3 gene. This alteration results from a C to G substitution at nucleotide position 464, causing the threonine (T) at amino acid position 155 to be replaced by a serine (S). 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