chrX-126552048-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_178470.5(DCAF12L1):c.561G>A(p.Leu187Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000019 in 1,211,334 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 9 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_178470.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000706 AC: 8AN: 113273Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 35425
GnomAD3 exomes AF: 0.0000219 AC: 4AN: 182831Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67505
GnomAD4 exome AF: 0.0000137 AC: 15AN: 1098061Hom.: 0 Cov.: 32 AF XY: 0.0000248 AC XY: 9AN XY: 363467
GnomAD4 genome AF: 0.0000706 AC: 8AN: 113273Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 35425
ClinVar
Submissions by phenotype
not provided Benign:1
DCAF12L1: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at