rs777612868
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_033334.4(NR6A1):āc.1063G>Cā(p.Asp355His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,862 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D355N) has been classified 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NR6A1 | ENST00000487099.7 | c.1063G>C | p.Asp355His | missense_variant | Exon 7 of 10 | 1 | NM_033334.4 | ENSP00000420267.1 | ||
NR6A1 | ENST00000373584.7 | c.1051G>C | p.Asp351His | missense_variant | Exon 7 of 10 | 1 | ENSP00000362686.3 | |||
NR6A1 | ENST00000416460.6 | c.1048G>C | p.Asp350His | missense_variant | Exon 7 of 10 | 1 | ENSP00000413701.2 | |||
NR6A1 | ENST00000344523.8 | c.1060G>C | p.Asp354His | missense_variant | Exon 7 of 10 | 5 | ENSP00000341135.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251108Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135682
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727228
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at