9-124535894-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033334.4(NR6A1):c.1063G>A(p.Asp355Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,930 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033334.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NR6A1 | ENST00000487099.7 | c.1063G>A | p.Asp355Asn | missense_variant | Exon 7 of 10 | 1 | NM_033334.4 | ENSP00000420267.1 | ||
NR6A1 | ENST00000373584.7 | c.1051G>A | p.Asp351Asn | missense_variant | Exon 7 of 10 | 1 | ENSP00000362686.3 | |||
NR6A1 | ENST00000416460.6 | c.1048G>A | p.Asp350Asn | missense_variant | Exon 7 of 10 | 1 | ENSP00000413701.2 | |||
NR6A1 | ENST00000344523.8 | c.1060G>A | p.Asp354Asn | missense_variant | Exon 7 of 10 | 5 | ENSP00000341135.4 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 251108Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135682
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461862Hom.: 1 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727228
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152068Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74264
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1063G>A (p.D355N) alteration is located in exon 7 (coding exon 7) of the NR6A1 gene. This alteration results from a G to A substitution at nucleotide position 1063, causing the aspartic acid (D) at amino acid position 355 to be replaced by an asparagine (N). 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