rs1283155
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000478250.1(NR4A1):n.185+2054G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.271 in 152,136 control chromosomes in the GnomAD database, including 6,141 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000478250.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NR4A1 | XM_017019248.2 | c.*243G>A | 3_prime_UTR_variant | 4/4 | |||
NR4A1 | XM_017019249.2 | c.*243G>A | 3_prime_UTR_variant | 4/4 | |||
NR4A1 | NM_001202233.2 | c.37+4036G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NR4A1 | ENST00000478250.1 | n.185+2054G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
NR4A1 | ENST00000549102.1 | n.487+2054G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
NR4A1 | ENST00000360284.7 | c.37+4036G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.271 AC: 41247AN: 152020Hom.: 6126 Cov.: 33
GnomAD4 genome ? AF: 0.271 AC: 41300AN: 152136Hom.: 6141 Cov.: 33 AF XY: 0.279 AC XY: 20749AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at