17-82036904-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016286.4(DCXR):c.260C>T(p.Ala87Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,692 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016286.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.260C>T | p.Ala87Val | missense_variant | Exon 3 of 8 | ENST00000306869.7 | NP_057370.1 | |
DCXR | NM_001195218.1 | c.254C>T | p.Ala85Val | missense_variant | Exon 3 of 8 | NP_001182147.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 248934Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135210
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460692Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726652
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.260C>T (p.A87V) alteration is located in exon 3 (coding exon 3) of the DCXR gene. This alteration results from a C to T substitution at nucleotide position 260, causing the alanine (A) at amino acid position 87 to be replaced by a valine (V). 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