NM_003861.3:c.2305G>A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_003861.3(DCAF5):c.2305G>A(p.Gly769Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,614,000 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003861.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DCAF5 | ENST00000341516.10 | c.2305G>A | p.Gly769Ser | missense_variant | Exon 9 of 9 | 1 | NM_003861.3 | ENSP00000341351.5 | ||
DCAF5 | ENST00000557386.5 | c.2302G>A | p.Gly768Ser | missense_variant | Exon 9 of 9 | 1 | ENSP00000451845.1 | |||
DCAF5 | ENST00000554215.5 | c.2059G>A | p.Gly687Ser | missense_variant | Exon 9 of 9 | 1 | ENSP00000451551.1 | |||
DCAF5 | ENST00000556847.5 | c.2059G>A | p.Gly687Ser | missense_variant | Exon 9 of 9 | 5 | ENSP00000452052.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250872Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135732
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461774Hom.: 0 Cov.: 33 AF XY: 0.0000110 AC XY: 8AN XY: 727192
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152226Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2305G>A (p.G769S) alteration is located in exon 9 (coding exon 9) of the DCAF5 gene. This alteration results from a G to A substitution at nucleotide position 2305, causing the glycine (G) at amino acid position 769 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