17-82036007-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016286.4(DCXR):c.688A>T(p.Thr230Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,613,318 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016286.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCXR | NM_016286.4 | c.688A>T | p.Thr230Ser | missense_variant | Exon 8 of 8 | ENST00000306869.7 | NP_057370.1 | |
DCXR | NM_001195218.1 | c.682A>T | p.Thr228Ser | missense_variant | Exon 8 of 8 | NP_001182147.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250620Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135742
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461040Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726796
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152278Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.688A>T (p.T230S) alteration is located in exon 8 (coding exon 8) of the DCXR gene. This alteration results from a A to T substitution at nucleotide position 688, causing the threonine (T) at amino acid position 230 to be replaced by a serine (S). 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