11-11964597-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001018057.2(DKK3):āc.920A>Gā(p.Glu307Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00743 in 1,614,160 control chromosomes in the GnomAD database, including 175 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001018057.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0187 AC: 2845AN: 152160Hom.: 68 Cov.: 33
GnomAD3 exomes AF: 0.00845 AC: 2126AN: 251454Hom.: 30 AF XY: 0.00816 AC XY: 1109AN XY: 135908
GnomAD4 exome AF: 0.00625 AC: 9139AN: 1461882Hom.: 106 Cov.: 36 AF XY: 0.00640 AC XY: 4653AN XY: 727240
GnomAD4 genome AF: 0.0187 AC: 2854AN: 152278Hom.: 69 Cov.: 33 AF XY: 0.0184 AC XY: 1367AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at