chrX-30304582-T-C
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_000475.5(NR0B1):āc.1410A>Gā(p.Ile470Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000583 in 1,210,221 control chromosomes in the GnomAD database, including 2 homozygotes. There are 268 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_000475.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NR0B1 | NM_000475.5 | c.1410A>G | p.Ile470Met | missense_variant | 2/2 | ENST00000378970.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NR0B1 | ENST00000378970.5 | c.1410A>G | p.Ile470Met | missense_variant | 2/2 | 1 | NM_000475.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000810 AC: 91AN: 112307Hom.: 1 Cov.: 23 AF XY: 0.00104 AC XY: 36AN XY: 34469
GnomAD3 exomes AF: 0.000962 AC: 176AN: 182944Hom.: 0 AF XY: 0.000831 AC XY: 56AN XY: 67410
GnomAD4 exome AF: 0.000560 AC: 615AN: 1097861Hom.: 1 Cov.: 30 AF XY: 0.000639 AC XY: 232AN XY: 363225
GnomAD4 genome AF: 0.000810 AC: 91AN: 112360Hom.: 1 Cov.: 23 AF XY: 0.00104 AC XY: 36AN XY: 34532
ClinVar
Submissions by phenotype
Congenital adrenal hypoplasia, X-linked;C1848296:46,XY sex reversal 2 Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Aug 15, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
NR0B1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 02, 2020 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 11, 2019 | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at