10-93074020-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000783.4(CYP26A1):c.86A>G(p.Asp29Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_000783.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP26A1 | ENST00000224356.5 | c.86A>G | p.Asp29Gly | missense_variant | Exon 1 of 7 | 1 | NM_000783.4 | ENSP00000224356.4 | ||
CYP26A1 | ENST00000371531.5 | c.-19+186A>G | intron_variant | Intron 1 of 6 | 2 | ENSP00000360586.1 | ||||
ENSG00000285846 | ENST00000648258.1 | n.892-1806A>G | intron_variant | Intron 1 of 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.86A>G (p.D29G) alteration is located in exon 1 (coding exon 1) of the CYP26A1 gene. This alteration results from a A to G substitution at nucleotide position 86, causing the aspartic acid (D) at amino acid position 29 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.