rs10482614
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS1
The NM_001364185.1(NR3C1):c.-249G>C variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000109 in 985,272 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NM_001364185.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NR3C1 | NM_000176.3 | c.-14+374G>C | intron_variant | ENST00000394464.7 | NP_000167.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NR3C1 | ENST00000394464.7 | c.-14+374G>C | intron_variant | 1 | NM_000176.3 | ENSP00000377977.2 |
Frequencies
GnomAD3 genomes AF: 0.000500 AC: 76AN: 152144Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000372 AC: 31AN: 833012Hom.: 0 Cov.: 29 AF XY: 0.0000260 AC XY: 10AN XY: 384686
GnomAD4 genome AF: 0.000499 AC: 76AN: 152260Hom.: 0 Cov.: 33 AF XY: 0.000618 AC XY: 46AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at