rs12628403
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_145699.4(APOBEC3A):c.470-66A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0935 in 1,555,134 control chromosomes in the GnomAD database, including 9,457 homozygotes. 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_145699.4 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_145699.4. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
Frequencies
GnomAD3 genomes AF: 0.0848 AC: 12876AN: 151874Hom.: 920 Cov.: 31 show subpopulations
GnomAD4 exome AF: 0.0944 AC: 132432AN: 1403142Hom.: 8515 AF XY: 0.0954 AC XY: 65883AN XY: 690844 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0850 AC: 12919AN: 151992Hom.: 942 Cov.: 31 AF XY: 0.0899 AC XY: 6678AN XY: 74314 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at