1-47438333-C-T
Variant summary
Our verdict is Benign. The variant received -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_004474.4(FOXD2):c.198C>T(p.Asp66Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000622 in 1,285,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004474.4 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151546Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.00000617 AC: 7AN: 1133606Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 6AN XY: 543318 show subpopulations
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151546Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 73996 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at