17-82036419-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016286.4(DCXR):āc.478A>Gā(p.Thr160Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000601 in 1,613,342 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_016286.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCXR | NM_016286.4 | c.478A>G | p.Thr160Ala | missense_variant | Exon 6 of 8 | ENST00000306869.7 | NP_057370.1 | |
DCXR | NM_001195218.1 | c.472A>G | p.Thr158Ala | missense_variant | Exon 6 of 8 | NP_001182147.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152088Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000439 AC: 11AN: 250366Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135710
GnomAD4 exome AF: 0.0000616 AC: 90AN: 1461254Hom.: 0 Cov.: 33 AF XY: 0.0000784 AC XY: 57AN XY: 726906
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152088Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.478A>G (p.T160A) alteration is located in exon 6 (coding exon 6) of the DCXR gene. This alteration results from a A to G substitution at nucleotide position 478, causing the threonine (T) at amino acid position 160 to be replaced by an alanine (A). 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