NM_001013628.3:c.1381C>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001013628.3(DCAF12L2):c.1381C>G(p.Leu461Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,207,514 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013628.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000888 AC: 1AN: 112650Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34798
GnomAD4 exome AF: 0.00000183 AC: 2AN: 1094864Hom.: 0 Cov.: 30 AF XY: 0.00000277 AC XY: 1AN XY: 360810
GnomAD4 genome AF: 0.00000888 AC: 1AN: 112650Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34798
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1381C>G (p.L461V) alteration is located in exon 1 (coding exon 1) of the DCAF12L2 gene. This alteration results from a C to G substitution at nucleotide position 1381, causing the leucine (L) at amino acid position 461 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