17-82035989-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016286.4(DCXR):āc.706C>Gā(p.Pro236Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,613,138 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCXR | NM_016286.4 | c.706C>G | p.Pro236Ala | missense_variant | Exon 8 of 8 | ENST00000306869.7 | NP_057370.1 | |
DCXR | NM_001195218.1 | c.700C>G | p.Pro234Ala | missense_variant | Exon 8 of 8 | NP_001182147.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1460936Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726720
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.706C>G (p.P236A) alteration is located in exon 8 (coding exon 8) of the DCXR gene. This alteration results from a C to G substitution at nucleotide position 706, causing the proline (P) at amino acid position 236 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